rs578064307
This variant is located in the MCPH1 gene.
▶ClinVar annotation
Benign★☆☆☆
1 submitter1 publicationAbout 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]
View all MCPH1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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