MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:156
Name:ACHROMATOPSIA 7
Definition:
Alternative IDs:DO:DOID:0110009
ParentIDs:MESH:D003117
TreeNumbers:C10.597.751.941.256/616517 |C11.270.151.500/616517 |C11.966.256/616517 |C23.888.592.763.941.256/616517
Synonyms:ACHM7
Slim Mappings:Eye disease|Nervous system disease|Signs and symptoms
Reference: MedGen: 616517
MeSH: 616517
OMIM: 616517;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0011516AchromatopsiaHP:0040284
3 HP:0000603Central scotomaHP:0040284
4 HP:0007750Hypoplasia of the foveaHP:0040284
5 HP:0007401Macular atrophyHP:0040284
6 HP:0000639NystagmusHP:0040284
7 HP:0000613PhotophobiaHP:0040284
8 HP:0007663Reduced visual acuityHP:0040284
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_007348.4(ATF6):c.3G>T (p.Met1Ile)22926ATF6Pathogenic915211840RCV001255912; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:4938211617361531617361531:g.161736153G>T-
NM_007348.4(ATF6):c.82+5G>T22926ATF6Pathogenic797045170RCV000191035|RCV001093017; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382|MedGen:C366190011617362371617362371:g.161736237G>TClinGen:CA214898C4225297 616517 Achromatopsia 7;
NM_007348.4(ATF6):c.105C>T (p.Leu35=)22926ATF6Benign2070151RCV001510280|RCV001553870; NMedGen:C3661900|MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:493821161748056161748056161748056-
NM_007348.4(ATF6):c.199A>G (p.Met67Val)22926ATF6Benign1058405RCV000986451|RCV001518516; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382|MedGen:C366190011617517411617517411:g.161751741A>G-
NM_007348.4(ATF6):c.270T>C (p.Pro90=)22926ATF6Benign2271013RCV001510281|RCV001553924; NMedGen:C3661900|MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:493821161753802161753802161753802-
NM_007348.4(ATF6):c.309G>A (p.Ser103=)22926ATF6Benign2271012RCV001510282|RCV001553925; NMedGen:C3661900|MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:493821161753841161753841161753841-
NM_007348.4(ATF6):c.353del (p.Pro118fs)22926ATF6Pathogenic797045171RCV000191036; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:4938211617538841617538841:g.161753884_161753884delClinGen:CA214899C4225297 616517 Achromatopsia 7;
NM_007348.3(ATF6):c.355dup22926ATF6Pathogenic869320751RCV000190367; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:493821161761196161761197NC_000001.10:g.161761198dupClinGen:CA10575758,OMIM:605537.0001C4225297 616517 Achromatopsia 7;
NM_007348.4(ATF6):c.511del (p.Ile171fs)22926ATF6Likely pathogenic1571134523RCV000985102; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:4938211617619341617619341:g.161761934_161761934del-
NM_007348.4(ATF6):c.677C>A (p.Ala226Glu)22926ATF6Uncertain significance1386210791RCV001333648; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:493821161762106161762106161762106-
NM_007348.4(ATF6):c.709C>T (p.Gln237Ter)22926ATF6Pathogenic1571143590RCV000986452|RCV001869334; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382|MedGen:CN51720211617718621617718621:g.161771862C>T-
NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer)22926ATF6Pathogenic797045173RCV000191039; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:4938211617719471617719481:g.161771947_161771948insCClinGen:CA214901,OMIM:605537.0004C4225297 616517 Achromatopsia 7;
NM_007348.4(ATF6):c.854A>G (p.Lys285Arg)22926ATF6Likely pathogenic1685168329RCV001255913; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:4938211617720071617720071:g.161772007A>G-
NM_007348.4(ATF6):c.950G>A (p.Arg317Gln)22926ATF6Likely pathogenic771933147RCV001255911; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:4938211617894631617894631:g.161789463G>A-
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys)22926ATF6Pathogenic761357250RCV000190368|RCV001390414|RCV003390920; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382|MedGen:C3661900|11617894831617894831:g.161789483C>TClinGen:CA346915,UniProtKB:P18850#VAR_075681,OMIM:605537.0002C4225297 616517 Achromatopsia 7;
NM_007348.4(ATF6):c.1110dup (p.Val371fs)22926ATF6Pathogenic797045174RCV000191040; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:4938211617908711617908721:g.161790871_161790872insAClinGen:CA214902,OMIM:605537.0005C4225297 616517 Achromatopsia 7;
NM_007348.4(ATF6):c.1187+5G>C22926ATF6Pathogenic761129859RCV000191037; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:4938211617909561617909561:g.161790956G>CClinGen:CA214900C4225297 616517 Achromatopsia 7;
NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs)22926ATF6Uncertain significance1571184566RCV000986453; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:4938211618162401618162411:g.161816240_161816241insTTTTT-
NM_007348.4(ATF6):c.1191G>T (p.Met397Ile)22926ATF6Likely benign1285628089RCV000986454; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:4938211618162421618162421:g.161816242G>T-
NM_007348.4(ATF6):c.1434-3T>A22926ATF6Benign2257107RCV000986455|RCV001513111; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382|MedGen:C366190011618230111618230111:g.161823011T>A-
NM_007348.4(ATF6):c.1533+1G>C22926ATF6Pathogenic797045172RCV000191038; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:4938211618231141618231141:g.161823114G>CClinGen:CA346964,OMIM:605537.0003C4225297 616517 Achromatopsia 7;
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn)22926ATF6Pathogenic796065053RCV000190372; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:493821161833082161833082NC_000001.10:g.161833082T>AClinGen:CA214892,UniProtKB:P18850#VAR_075682,OMIM:605537.0006C4225297 616517 Achromatopsia 7;
NM_007348.4(ATF6):c.1784del (p.Leu595fs)22926ATF6Likely pathogenic1558022158RCV000723355; NMONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:493821161882149161882149NC_000001.10:g.161882150del-
NM_007348.4(ATF6):c.1896A>G (p.Ser632=)22926ATF6Benign9482RCV001517526|RCV001553926; NMedGen:C3661900|MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:493821161928327161928327161928327-
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