rs199636248

This variant is located in the CABP4 gene.

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ClinVar annotation

Pathogenic★★★☆
2 submitters4 publications

not provided; Cone-rod synaptic disorder, congenital nonprogressive

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About 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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