rs587783733

This is a variant in the MCPH1 gene that changes a phenylalanine to an serine.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters1 publication

Microcephaly 1, primary, autosomal recessive

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About MCPH1

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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