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rs80338831

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs80338831(C;C)
Make rs80338831(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position36292060
GeneMYH9
is asnp
is mentioned by
dbSNPrs80338831
ebirs80338831
HLIrs80338831
Exacrs80338831
Varsomers80338831
Maprs80338831
PheGenIrs80338831
hapmaprs80338831
1000 genomesrs80338831
hgdprs80338831
ensemblrs80338831
gopubmedrs80338831
geneviewrs80338831
scholarrs80338831
googlers80338831
pharmgkbrs80338831
gwascentralrs80338831
openSNPrs80338831
23andMers80338831
23andMe allrs80338831
SNP Nexus

SNPshotrs80338831
SNPdbers80338831
MSV3drs80338831
GWAS Ctlgrs80338831
Max Magnitude0
OMIM160775
Desc
Variant0005
Relatedalso
OMIM160775
Desc
Variant0010
Relatedalso
ClinVar
Risk rs80338831(A,C,T;A,C,T)
Alt rs80338831(A,C,T;A,C,T)
Reference rs80338831(G;G)
Significance Pathogenic
Disease MYH9 related disorders Fechtner syndrome May-Hegglin anomaly Macrothrombocytopenia and progressive sensorineural deafness Sebastian syndrome
Variation info
Gene MYH9
CLNDBN MYH9 related disorders Fechtner syndrome May-Hegglin anomaly Macrothrombocytopenia and progressive sensorineural deafness Sebastian syndrome
Reversed 1
HGVS NC_000022.10:g.36688106C>A; NC_000022.10:g.36688106C>G; NC_000022.10:g.36688106C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032224.1, RCV000015123.26, RCV000032223.1, RCV000015134.26, RCV000015135.26, RCV000015136.26, RCV000015137.22, RCV000032222.1,


[PMID 10973259] Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.


[PMID 11093280] Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.


[PMID 11159552] Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).


[PMID 11590545OA-icon.png] Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.


[PMID 12621333] Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.


[PMID 12649151] Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.