Variant: rs80338827 

    present in Gene: MYH9
    present in Chromosome: 22
    Position on Chromosome: 36305984
    Alleles of this Variant: C/T

rs80338827 in MYH9 gene and May-Hegglin anomaly PMID 11752022 2002 Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

PMID 16969870 2006 Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

PMID 11590545 2001 R702C and R702H mutations were only associated with FTNS, EPS, or APSM, thus defining a region of MYHIIA critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness.

PMID 10973259 2000 Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

PMID 10973260 2000 Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

PMID 12792306 2003 MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.

PMID 11935325 2002 Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

PMID 12649151 2003 Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

PMID 12533692 2003 Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.

PMID 12621333 2003 Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.

PMID 11776386 2001 Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

rs80338827 in MYH9 gene and SEBASTIAN SYNDROME PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.