rs74804322
This variant is located in the PVALB gene.
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout PVALB
The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
View all PVALB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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