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:5079
Name:Glaucoma 1, Open Angle, F
Definition:
Alternative IDs:OMIM:603383
ParentIDs:MESH:D005902
TreeNumbers:C11.525.381.407/C566383
Synonyms:GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET |GLC1F
Slim Mappings:Eye disease
Reference: MedGen: C566383
MeSH: C566383
OMIM: 603383;
MSeqDR LSDB:  
Genes: ASB10; SP110;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007854Glaucomatous visual field defect
3 HP:0012796Increased cup-to-disc ratio
4 HP:0007906Increased intraocular pressure
5 HP:0012108Open angle glaucoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001142459.2(ASB10):c.1318A>G (p.Ser440Gly)136371ASB10not providedrs104886487RCV000086402; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150873285150873285TC7:g.150873285T>CClinGen:CA150482C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.1272G>A (p.Ser424=)136371ASB10Benign/Likely benignrs104886486RCV000086401|RCV000953138; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:603383|MedGen:CN5172027150873331150873331CT7:g.150873331C>TClinGen:CA150480C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.1096C>T (p.Leu366Phe)136371ASB10not providedrs104886485RCV000086398; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878034150878034GA7:g.150878034G>AClinGen:CA150474C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.1092G>T (p.Gly364=)136371ASB10not providedrs151344614RCV000086430; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878038150878038CA7:g.150878038C>AClinGen:CA150538C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.1079G>A (p.Arg360His)136371ASB10not providedrs151344612RCV000086429; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878051150878051CT7:g.150878051C>TClinGen:CA150536C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.1078C>T (p.Arg360Cys)136371ASB10not providedrs104886484RCV000086397; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878052150878052GA7:g.150878052G>AClinGen:CA150472C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.1066C>T (p.His356Tyr)136371ASB10not providedrs151344611RCV000086428; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878064150878064GA7:g.150878064G>AClinGen:CA150534C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.1046T>C (p.Val349Ala)136371ASB10not providedrs104886483RCV000086396; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878084150878084AG7:g.150878084A>GClinGen:CA150470C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.1024C>T (p.Leu342=)136371ASB10not providedrs61734407RCV000086440; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878106150878106GA7:g.150878106G>AClinGen:CA150557C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.996C>G (p.His332Gln)136371ASB10not providedrs104886482RCV000086419; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878134150878134GC7:g.150878134G>CClinGen:CA150516C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.986C>T (p.Thr329Met)136371ASB10not providedrs104886481RCV000086417; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878144150878144GA7:g.150878144G>AClinGen:CA150512C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.958G>A (p.Ala320Thr)136371ASB10not providedrs151344610RCV000086439; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878172150878172CT7:g.150878172C>TClinGen:CA150555C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.910C>T (p.Arg304Cys)136371ASB10Benignrs61735130RCV000086416|RCV000974090; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:603383|MedGen:CN5172027150878220150878220GA7:g.150878220G>AClinGen:CA150510C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.908G>A (p.Arg303His)136371ASB10not providedrs104886479RCV000086415; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878222150878222CT7:g.150878222C>TClinGen:CA150508C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.884A>T (p.Gln295Leu)136371ASB10not providedrs151344609RCV000086438; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878246150878246TA7:g.150878246T>AClinGen:CA150553C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.815G>A (p.Arg272His)136371ASB10not providedrs140602973RCV000086437; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878315150878315CT7:g.150878315C>TClinGen:CA150551C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.810C>T (p.Thr270=)136371ASB10Pathogenicrs104886478RCV000043656; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878320150878320GA7:g.150878320G>AClinGen:CA143895,OMIM:615054.0001C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.737C>A (p.Ala246Asp)136371ASB10not providedrs104886477RCV000086414; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878393150878393GT7:g.150878393G>TClinGen:CA150506C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.731G>A (p.Arg244His)136371ASB10Uncertain significancers104886476RCV000086413|RCV001358001; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:603383|MedGen:CN5172027150878399150878399CT7:g.150878399C>TClinGen:CA150504C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.714G>A (p.Gly238=)136371ASB10not providedrs104886475RCV000086436; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878416150878416CT7:g.150878416C>TClinGen:CA150549C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.628C>A (p.Arg210=)136371ASB10not providedrs151344613RCV000086435; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878502150878502GT7:g.150878502G>TClinGen:CA150547C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.619G>C (p.Val207Leu)136371ASB10Likely benignrs104886474RCV000043658|RCV001498843; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:603383|MedGen:CN5172027150878511150878511CG7:g.150878511C>GClinGen:CA143899,OMIM:615054.0003C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.590C>T (p.Ala197Val)136371ASB10not providedrs151344607RCV000086434; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150878540150878540GA7:g.150878540G>AClinGen:CA150545C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.565C>T (p.Arg189Trp)136371ASB10not providedrs104886473RCV000086409; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150883498150883498GA7:g.150883498G>AClinGen:CA150496C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.564C>A (p.Cys188Ter)136371ASB10Pathogenicrs151344606RCV000043657; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150883499150883499GT7:g.150883499G>TClinGen:CA143897,OMIM:615054.0002C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.547C>T (p.Arg183Cys)136371ASB10not providedrs151344605RCV000086433; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150883516150883516GA7:g.150883516G>AClinGen:CA150543C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.524A>C (p.Asn175Thr)136371ASB10not providedrs104886472RCV000086408; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150883539150883539TG7:g.150883539T>GClinGen:CA150494C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.516C>T (p.Ala172=)136371ASB10not providedrs104886471RCV000086407; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150883547150883547GA7:g.150883547G>AClinGen:CA150492C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.515C>T (p.Ala172Val)136371ASB10not providedrs151344604RCV000086432; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150883548150883548GA7:g.150883548G>AClinGen:CA150541C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.487T>A (p.Cys163Ser)136371ASB10not providedrs104886470RCV000086406; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150883576150883576AT7:g.150883576A>TClinGen:CA150490C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.470C>T (p.Ala157Val)136371ASB10Benignrs77615410RCV000086405|RCV001664397; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:603383|MedGen:CN5172027150883593150883593GA7:g.150883593G>AClinGen:CA150488C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.291T>A (p.Asp97Glu)136371ASB10not providedrs151344619RCV000086427; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150883927150883927AT7:g.150883927A>TClinGen:CA150532,UniProtKB:Q8WXI3#VAR_069874C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.281G>A (p.Arg94Gln)136371ASB10not providedrs147737381RCV000086426; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150883937150883937CT7:g.150883937C>TClinGen:CA150530,UniProtKB:Q8WXI3#VAR_069873C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.271G>T (p.Asp91Tyr)136371ASB10not providedrs104886490RCV000086395; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150883947150883947CA7:g.150883947C>AClinGen:CA150468,UniProtKB:Q8WXI3#VAR_069872C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.263A>T (p.Asp88Val)136371ASB10not providedrs151344617RCV000086425; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150883955150883955TA7:g.150883955T>AClinGen:CA150528,UniProtKB:Q8WXI3#VAR_069871C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.225G>A (p.Ala75=)136371ASB10not providedrs151344622RCV000086424; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150883993150883993CT7:g.150883993C>TClinGen:CA150526C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.224C>A (p.Ala75Glu)136371ASB10Benign/Likely benignrs104886489RCV000086394|RCV000968118; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:603383|MedGen:CN5172027150883994150883994GT7:g.150883994G>TClinGen:CA150466C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.215G>A (p.Arg72His)136371ASB10Likely benignrs104886488RCV000043659|RCV000970678; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:603383|MedGen:CN5172027150884003150884003CT7:g.150884003C>TClinGen:CA143901,UniProtKB:Q8WXI3#VAR_069870,OMIM:615054.0004C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.204C>G (p.Gly68=)136371ASB10not providedrs151344621RCV000086423; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150884014150884014GC7:g.150884014G>CClinGen:CA150524C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.199G>A (p.Val67Met)136371ASB10not providedrs151344616RCV000086422; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150884019150884019CT7:g.150884019C>TClinGen:CA150522,UniProtKB:Q8WXI3#VAR_069869C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.143C>G (p.Thr48Ser)136371ASB10not providedrs151344615RCV000086421; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150884075150884075GC7:g.150884075G>CClinGen:CA150520,UniProtKB:Q8WXI3#VAR_069867C1863926 603383 Glaucoma 1, open angle, F;
NM_001142459.2(ASB10):c.105T>G (p.Ser35=)136371ASB10not providedrs151344620RCV000086420; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150884113150884113AC7:g.150884113A>CClinGen:CA150518C1863926 603383 Glaucoma 1, open angle, F;
NM_080871.4(ASB10):c.204G>T (p.Pro68=)136371ASB10not providedrs104886469RCV000086404; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150884606150884606CA7:g.150884606C>AClinGen:CA150486C1863926 603383 Glaucoma 1, open angle, F;
NM_080871.4(ASB10):c.204G>A (p.Pro68=)136371ASB10not providedrs104886469RCV000086431; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150884606150884606CT7:g.150884606C>TClinGen:CA150540C1863926 603383 Glaucoma 1, open angle, F;
NM_080871.4(ASB10):c.176T>C (p.Leu59Pro)136371ASB10not providedrs104886468RCV000086403; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150884634150884634AG7:g.150884634A>GClinGen:CA150484C1863926 603383 Glaucoma 1, open angle, F;
NM_080871.4(ASB10):c.116G>A (p.Arg39Gln)136371ASB10not providedrs104886467RCV000086400; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150884694150884694CT7:g.150884694C>TClinGen:CA150478C1863926 603383 Glaucoma 1, open angle, F;
NM_080871.4(ASB10):c.115C>T (p.Arg39Trp)136371ASB10not providedrs104886466RCV000086399; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150884695150884695GA7:g.150884695G>AClinGen:CA150476C1863926 603383 Glaucoma 1, open angle, F;
NM_080871.4(ASB10):c.94C>A (p.Arg32Ser)136371ASB10not providedrs104886465RCV000086418; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150884716150884716GT7:g.150884716G>TClinGen:CA150514C1863926 603383 Glaucoma 1, open angle, F;
NM_080871.4(ASB10):c.60C>T (p.Ser20=)136371ASB10not providedrs104886464RCV000086412; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150884750150884750GA7:g.150884750G>AClinGen:CA150502C1863926 603383 Glaucoma 1, open angle, F;
NM_080871.4(ASB10):c.56C>G (p.Pro19Arg)136371ASB10Benignrs104886463RCV000086411|RCV001723673; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:603383|MedGen:CN5172027150884754150884754GC7:g.150884754G>CClinGen:CA150500C1863926 603383 Glaucoma 1, open angle, F;
NM_080871.4(ASB10):c.55C>T (p.Pro19Ser)136371ASB10not providedrs104886462RCV000086410; NMONDO:MONDO:0011311,MedGen:C1863926,OMIM:6033837150884755150884755GA7:g.150884755G>AClinGen:CA150498C1863926 603383 Glaucoma 1, open angle, F;
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