rs1216850071
This variant is located in the CABP4 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout CABP4
This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
View all CABP4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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