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Spinocerebellar Ataxias (D020754)
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Spinocerebellar ataxia 28 (C537205)

       Child Nodes:



 Sister Nodes: 
..expandAnemia, sideroblastic spinocerebellar ataxia (C536358)
..expandAtaxia Telangiectasia (D001260) Child6
..expandChorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..expandGemignani syndrome (C537678)
..expandMachado-Joseph Disease (D017827) Child1
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)  LSDB  L: 00036;
..expandSpastic Ataxia (C564815)
..expandSpastic ataxia Charlevoix-Saguenay type (C536787)
..expandSpinocerebellar Ataxia 10 (C566874)
..expandSpinocerebellar Ataxia 11 (C565772)
..expandSpinocerebellar Ataxia 12 (C565790)
..expandSpinocerebellar ataxia 13 (C537195)
..expandSpinocerebellar ataxia 14 (C537196)
..expandSpinocerebellar Ataxia 15 (C564685)
..expandSpinocerebellar Ataxia 17 (C564616)
..expandSpinocerebellar ataxia 20 (C537199)
..expandSpinocerebellar ataxia 25 (C537202)
..expandSpinocerebellar ataxia 26 (C537203)
..expandSpinocerebellar ataxia 28 (C537205)  LSDB  L: 00498;
..expandSpinocerebellar ataxia 30 (C575214)
..expandSpinocerebellar Ataxia 31 (C566146)
..expandSpinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..expandSpinocerebellar Ataxia with Dysmorphism (C564802)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSpinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..expandSpinocerebellar ataxia, autosomal recessive 1 (C537308)
..expandSpinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..expandSpinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..expandSpinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..expandSpinocerebellar Ataxia, X-Linked 1 (C563134)
..expandSpinocerebellar Ataxia, X-Linked 5 (C567478)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11555
Name:Spinocerebellar ataxia 28
Definition:
Alternative IDs:OMIM:610246
ParentIDs:MESH:D020754
TreeNumbers:C10.228.140.252.190.530/C537205 |C10.228.140.252.700.700/C537205 |C10.228.854.787.875/C537205 |C10.574.500.825.700/C537205 |C10.597.350.090.500.530/C537205 |C16.320.400.780.875/C537205
Synonyms:SCA28
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537205
MeSH: C537205
OMIM: 610246;
MSeqDR LSDB: 00498;  
Genes: AFG3L2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003487Babinski sign
3 HP:0001272Cerebellar atrophy
4 HP:0001260Dysarthria
NAMDC:  Dysarthria
5 HP:0000641Dysmetric saccades
6 HP:0001332Dystonia
NAMDC:  Dystonia
HP:0040283
7 HP:0002066Gait ataxia
8 HP:0000640Gaze-evoked nystagmus
9 HP:0001276Hypertonia
10 HP:0002070Limb ataxia
11 HP:0002395Lower limb hyperreflexia
12 HP:0000597Ophthalmoparesis
NAMDC:  Ophthalmoparesis
13 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
HP:0040283
14 HP:0000508Ptosis
NAMDC:  Ptosis
15 HP:0003677Slow progression
16 HP:0000514Slow saccadic eye movements
17 HP:0001257Spasticity
NAMDC:  Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006796.3(AFG3L2):c.*585A>C10939AFG3L2Uncertain significancers886053611RCV000290785; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181232897912328979TG18:g.12328979T>GClinGen:CA10641069CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*484A>G10939AFG3L2Uncertain significancers565352114RCV000345865; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181232908012329080TCNC_000018.9:g.12329080T>CClinGen:CA10651360CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*379T>A10939AFG3L2Uncertain significancers150224434RCV001128527; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181232918512329185AT18:g.12329185A>T-
NM_006796.3(AFG3L2):c.*373G>A10939AFG3L2Uncertain significancers886053612RCV000403145; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181232919112329191CTNC_000018.9:g.12329191C>TClinGen:CA10650534CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*326G>A10939AFG3L2Uncertain significancers180917336RCV000303900; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181232923812329238CTNC_000018.9:g.12329238C>TClinGen:CA10641070CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*311C>T10939AFG3L2Benignrs79884272RCV000340153; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181232925312329253GANC_000018.9:g.12329253G>AClinGen:CA10641074CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*221A>G10939AFG3L2Uncertain significancers886053613RCV000396483; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181232934312329343TCNC_000018.9:g.12329343T>CClinGen:CA10650535CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*109A>C10939AFG3L2Benign/Likely benignrs114203162RCV000300228|RCV001548410; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181232945512329455TGNC_000018.9:g.12329455T>GClinGen:CA10650537CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*28G>C10939AFG3L2Benignrs1129115RCV000357421|RCV001548983|RCV001548982|RCV001618575; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772|MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977|MedGen:CN517202181232953612329536CGNC_000018.9:g.12329536C>GClinGen:CA8896206CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*2G>A10939AFG3L2Benignrs113981080RCV000123560|RCV000260206|RCV000676671; NMedGen:CN169374|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181232956212329562CTNC_000018.9:g.12329562C>TClinGen:CA289324CN517202 not provided;
NM_006796.3(AFG3L2):c.2347C>T (p.Arg783Trp)10939AFG3L2Uncertain significancers200514577RCV000482572|RCV001809441; NMedGen:CN517202|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181232961112329611GA18:g.12329611G>AClinGen:CA8896223CN169374 not specified;
NM_006796.3(AFG3L2):c.2346G>T (p.Glu782Asp)10939AFG3L2Uncertain significancers886053614RCV000298914; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181232961212329612CANC_000018.9:g.12329612C>AClinGen:CA10651363CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)10939AFG3L2Conflicting interpretations of pathogenicityrs117182113RCV000197194|RCV000369996|RCV000488282|RCV001262989; NMedGen:CN169374|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772181232964412329644GANC_000018.9:g.12329644G>AClinGen:CA321640CN517202 not provided;
NM_006796.3(AFG3L2):c.2175+14G>A10939AFG3L2Likely benignrs758755215RCV000277671; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181233732612337326CTNC_000018.9:g.12337326C>TClinGen:CA8896296CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)10939AFG3L2Conflicting interpretations of pathogenicityrs139469785RCV000195592|RCV001122821|RCV001640294|RCV001640293; NMedGen:CN517202|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN169374|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772181233734812337348CT18:g.12337348C>TClinGen:CA319947CN517202 not provided;
NM_006796.3(AFG3L2):c.2143C>T (p.Leu715Phe)10939AFG3L2Uncertain significance-1RCV001849217; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181233737212337372GA12337372-
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr)10939AFG3L2Conflicting interpretations of pathogenicityrs1598820805RCV000992832|RCV001809882; NMedGen:CN517202|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181233740112337401AG18:g.12337401A>G-
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)10939AFG3L2Pathogenic/Likely pathogenicrs151344523RCV000005807|RCV000487661; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181233741012337410CT18:g.12337410C>TClinGen:CA340426,UniProtKB:Q9Y4W6#VAR_063547,OMIM:604581.0004CN517202 not provided;
NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys)10939AFG3L2Pathogenicrs151344522RCV000031947|RCV001207352; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181233741712337417CT18:g.12337417C>TClinGen:CA343036,UniProtKB:Q9Y4W6#VAR_064408C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu)10939AFG3L2Pathogenicrs151344521RCV000005806; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181233743412337434GT18:g.12337434G>TClinGen:CA340424,UniProtKB:Q9Y4W6#VAR_063546,OMIM:604581.0003C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys)10939AFG3L2Pathogenicrs151344520RCV000005804; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181233744412337444CT18:g.12337444C>TClinGen:CA340419,UniProtKB:Q9Y4W6#VAR_063545,OMIM:604581.0001C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)10939AFG3L2Pathogenic/Likely pathogenicrs1598820860RCV000995691|RCV001091986; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181233745012337450AG18:g.12337450A>G-
NM_006796.3(AFG3L2):c.2062C>T (p.Pro688Ser)10939AFG3L2Likely pathogenicrs797045221RCV001268617|RCV001773581; NMedGen:CN517202|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181233745312337453GA18:g.12337453G>A-
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)10939AFG3L2Likely pathogenic-1RCV001787700; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181233745312337453GT12337453-
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys)10939AFG3L2Likely benignrs551015841RCV000330348|RCV000517688; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN169374181233748012337480GANC_000018.9:g.12337480G>AClinGen:CA8896320CN169374 not specified;
NM_006796.3(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu)10939AFG3L2Pathogenicrs151344519RCV000005805; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181233749312337494GGTANC_000018.9:g.12337493_12337494delinsTAClinGen:CA340421,OMIM:604581.0002C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu)10939AFG3L2Pathogenicrs151344518RCV000031946; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181233750312337503CT18:g.12337503C>TClinGen:CA343034,UniProtKB:Q9Y4W6#VAR_064406C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)10939AFG3L2Pathogenicrs151344517RCV000023378; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181233750412337504CT18:g.12337504C>TClinGen:CA342735,UniProtKB:Q9Y4W6#VAR_064407,OMIM:604581.0008C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg)10939AFG3L2Pathogenicrs151344515RCV000023377; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181233751812337518AC18:g.12337518A>CClinGen:CA342733,UniProtKB:Q9Y4W6#VAR_064403,OMIM:604581.0007C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr)10939AFG3L2Pathogenicrs151344515RCV000031943; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181233751812337518AG18:g.12337518A>GClinGen:CA343032,UniProtKB:Q9Y4W6#VAR_064404C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)10939AFG3L2Pathogenic/Likely pathogenicrs151344514RCV000023376|RCV000992830; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181233751912337519TC18:g.12337519T>CClinGen:CA342731,UniProtKB:Q9Y4W6#VAR_064405,OMIM:604581.0006C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)10939AFG3L2Likely pathogenicrs151344513RCV000031941; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181234021912340219GA18:g.12340219G>AClinGen:CA343030,UniProtKB:Q9Y4W6#VAR_064402,OMIM:604581.0009C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.1861C>G (p.Leu621Val)10939AFG3L2Conflicting interpretations of pathogenicity-1RCV001723389|RCV001849198; NMedGen:CN517202|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181234031912340319GC12340319-
NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His)10939AFG3L2Uncertain significancers1263405472RCV001122822; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181234038412340384CT18:g.12340384C>T-
NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr)10939AFG3L2Uncertain significancers758811358RCV001122823; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181234420412344204TG18:g.12344204T>G-
NM_006796.3(AFG3L2):c.1664-5G>C10939AFG3L2Uncertain significancers886053615RCV000368764; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181234425112344251CGNC_000018.9:g.12344251C>GClinGen:CA10650539CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.1664-9T>C10939AFG3L2Benignrs200476229RCV000174759|RCV000271865|RCV000676672; NMedGen:CN169374|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181234425512344255AGNC_000018.9:g.12344255A>GClinGen:CA302761CN517202 not provided;
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)10939AFG3L2Benignrs11553521RCV000116249|RCV000329004|RCV000676673|RCV001548985|RCV001548984; NMedGen:CN169374|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772|MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977181234828512348285TC18:g.12348285T>CClinGen:CA288674CN517202 not provided;
NM_006796.3(AFG3L2):c.1516G>T (p.Ala506Ser)10939AFG3L2Uncertain significancers1908301962RCV001123909; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181235112012351120CA18:g.12351120C>A-
NM_006796.3(AFG3L2):c.1426+9A>T10939AFG3L2Likely benignrs377339236RCV000381305|RCV000610629; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN169374181235129612351296TANC_000018.9:g.12351296T>AClinGen:CA8896507CN169374 not specified;
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu)10939AFG3L2Uncertain significancers375098002RCV000289354|RCV000660399; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109; MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772181235133412351334GA18:g.12351334G>AClinGen:CA325224C3280977 614487 Spastic ataxia 5, autosomal recessive;
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)10939AFG3L2Benignrs11080572RCV000116248|RCV000323296|RCV000676675|RCV001548986|RCV001549081; NMedGen:CN169374|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202|MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772181235134212351342CT18:g.12351342C>TClinGen:CA288671CN517202 not provided;
NM_006796.3(AFG3L2):c.1319-7C>T10939AFG3L2Benign/Likely benignrs182327153RCV000513298|RCV001126568|RCV001288730; NMedGen:CN517202|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN169374181235141912351419GA18:g.12351419G>AClinGen:CA8896522CN517202 not provided;
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr)10939AFG3L2Pathogenicrs151344512RCV000005808; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181235302712353027TG18:g.12353027T>GOMIM:604581.0005,ClinGen:CA340428,UniProtKB:Q9Y4W6#VAR_063544C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.1284G>T (p.Glu428Asp)10939AFG3L2Uncertain significance-1RCV001809171; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181235303812353038CA12353038-
NM_006796.3(AFG3L2):c.1164+1G>A10939AFG3L2Pathogenicrs1598832526RCV000791162; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181235669212356692CT18:g.12356692C>T-
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg)10939AFG3L2Likely pathogenicrs1598832568RCV000995692; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181235673812356738AT18:g.12356738A>T-
NM_006796.3(AFG3L2):c.1089A>G (p.Gly363=)10939AFG3L2Likely benignrs747246135RCV001126569; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181235676812356768TC18:g.12356768T>C-
NM_006796.3(AFG3L2):c.1065G>A (p.Thr355=)10939AFG3L2Likely benignrs139181972RCV000826948|RCV001126570; NMedGen:CN517202|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181235679212356792CT18:g.12356792C>T-
NM_006796.3(AFG3L2):c.1026+8G>A10939AFG3L2Benignrs8091858RCV000123555|RCV000379915|RCV000676676; NMedGen:CN169374|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181235866112358661CTNC_000018.9:g.12358661C>TClinGen:CA289322CN517202 not provided;
NM_006796.3(AFG3L2):c.891G>A (p.Lys297=)10939AFG3L2Uncertain significancers1908570292RCV001126571; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181235880412358804CT18:g.12358804C>T-
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)10939AFG3L2Conflicting interpretations of pathogenicityrs149605021RCV000283135|RCV000713023; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181235890212358902CTNC_000018.9:g.12358902C>TClinGen:CA8896651CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.753-55T>C10939AFG3L2Benign-1RCV001549082|RCV001549084|RCV001549083|RCV001615299; NMONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772|MedGen:CN517202181235899712358997AG12358997-
NM_006796.3(AFG3L2):c.752+6C>T10939AFG3L2Benignrs8097342RCV000179927|RCV000340354|RCV000676677|RCV001549085|RCV001549086; NMedGen:CN169374|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202|MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772181235992012359920GANC_000018.9:g.12359920G>AClinGen:CA303057CN517202 not provided;
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp)10939AFG3L2Likely benignrs768999765RCV001128629; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181235996012359960GA18:g.12359960G>A-
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile)10939AFG3L2Uncertain significance-1RCV001570064|RCV001810096; NMedGen:CN517202|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181236004412360044CT12360044-
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile)10939AFG3L2Uncertain significancers1373473541RCV000662105|RCV000662106|RCV001756119; NMONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181236383712363837CT18:g.12363837C>T-C3280977 614487 Spastic ataxia 5, autosomal recessive;
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=)10939AFG3L2Benignrs141538541RCV000405064|RCV000432288|RCV000884213; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN169374|MedGen:CN517202181236701812367018GANC_000018.9:g.12367018G>AClinGen:CA8896725CN169374 not specified;
NM_006796.3(AFG3L2):c.400-14C>G10939AFG3L2Benignrs192002414RCV000282045|RCV001690081; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181236713012367130GCNC_000018.9:g.12367130G>CClinGen:CA8896741CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile)10939AFG3L2Uncertain significancers915684170RCV000713021|RCV001796977; NMedGen:CN517202|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181236730912367309TANC_000018.9:g.12367309T>A-
NM_006796.3(AFG3L2):c.268A>G (p.Lys90Glu)10939AFG3L2Uncertain significancers886053616RCV000402595; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237087212370872TCNC_000018.9:g.12370872T>CClinGen:CA10647192CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.267T>G (p.Pro89=)10939AFG3L2Uncertain significancers1308467906RCV001128630; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237087312370873AC18:g.12370873A>C-
NM_006796.3(AFG3L2):c.244A>C (p.Asn82His)10939AFG3L2Uncertain significancers1908967089RCV001252969; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237089612370896TG18:g.12370896T>G-
NM_006796.3(AFG3L2):c.215-5A>C10939AFG3L2Benign/Likely benignrs371046479RCV000313807|RCV001557486; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181237093012370930TGNC_000018.9:g.12370930T>GClinGen:CA8896805CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.161T>G (p.Leu54Arg)10939AFG3L2Uncertain significance-1RCV001787316; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237164412371644AC12371644-
NM_006796.3(AFG3L2):c.114+12C>T10939AFG3L2Conflicting interpretations of pathogenicityrs758470020RCV000394614|RCV000422479; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN169374181237695612376956GANC_000018.9:g.12376956G>AClinGen:CA8896854CN169374 not specified;
NM_006796.3(AFG3L2):c.89C>T (p.Pro30Leu)10939AFG3L2Uncertain significancers886053617RCV000364860; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237699312376993GANC_000018.9:g.12376993G>AClinGen:CA10651369CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val)10939AFG3L2Uncertain significancers866272063RCV001331644; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237702912377029CA12377029-
NM_006796.3(AFG3L2):c.-18A>G10939AFG3L2Uncertain significancers886053618RCV000272564; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237709912377099TCNC_000018.9:g.12377099T>CClinGen:CA10650542CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.-32C>T10939AFG3L2Benignrs556432963RCV000123561|RCV000325300; NMedGen:CN169374|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237711312377113GANC_000018.9:g.12377113G>AClinGen:CA289325CN169374 not specified;
NM_006796.3(AFG3L2):c.-71C>T10939AFG3L2Benign/Likely benignrs571340907RCV000266676|RCV001577891; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181237715212377152GANC_000018.9:g.12377152G>AClinGen:CA8896865CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.-78C>A10939AFG3L2Uncertain significancers1909190689RCV001122941; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237715912377159GT18:g.12377159G>T-
NM_006796.3(AFG3L2):c.-92T>C10939AFG3L2Uncertain significancers574201536RCV000321012; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237717312377173AGNC_000018.9:g.12377173A>GClinGen:CA8896869CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.-96G>C10939AFG3L2Benignrs12327346RCV000377956|RCV001660673; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181237717712377177CGNC_000018.9:g.12377177C>GClinGen:CA8896871CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.-137G>C10939AFG3L2Benign/Likely benignrs191000529RCV000281188|RCV001568597; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109|MedGen:CN517202181237721812377218CGNC_000018.9:g.12377218C>GClinGen:CA8896873CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.-139T>C10939AFG3L2Uncertain significancers542643055RCV001122942; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237722012377220AG18:g.12377220A>G-
NC_000018.10:g.12377233G>A10939AFG3L2Benignrs554944971RCV001124004; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237723212377232GA18:g.12377232G>A-
NC_000018.10:g.12377261G>A10939AFG3L2Uncertain significancers576218520RCV001124005; NMONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109181237726012377260GA18:g.12377260G>A-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000141385 MSeqDR Search EnsemblAFG3L21078AFG3-like AAA ATPase 2 [Source:HGNC Symbol;Acc:315]00498

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