rs201785518
This is a stop gained variant in the ANKLE2 gene.
▶ClinVar annotation
Pathogenic★☆☆☆
4 submitters1 publicationMicrocephaly; Microcephaly 16, primary, autosomal recessive (MCPH16)
View on ClinVar →About ANKLE2
This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]
View all ANKLE2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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