rs771777720
This variant is located in the POC1A gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout POC1A
POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]
View all POC1A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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