rs370359511
This variant is located in the CIB2 gene.
▶ClinVar annotation
not provided; Autosomal recessive nonsyndromic hearing loss 48; Childhood onset hearing loss; not specified; Usher syndrome; Usher syndrome type 1J;Autosomal recessive nonsyndromic hearing loss 48; Hearing loss, autosomal recessive
View on ClinVar →About CIB2
The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
View all CIB2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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