G2Cdb::Allele report

Mutation type

Altered genes (1)

Gene Symbol Species Description
G00002004 MYH9 Homo sapiens myosin, heavy chain 9, non-muscle

Diseases (1)

Disease Description Nervous effect
D00000134 MYH9-related disease N

Literature (1)

Pubmed - human_disease

  • Hematologic and genetic characterization of an MYH9-related disorder in a Chinese family.

    Ma ES, Wong CL, Shek TW and Hui SP

    We describe a Chinese family with an MYH9-related disorder in which a novel mutation V1516L at exon 31 of the MYH9 gene was identified. To the best of our knowledge, this is the first reported Chinese family with MYH9 mutation and supports the pan-ethnic nature of the disorder.

    Haematologica 2006;91;7;1002-3

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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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