EFCAB3

EF-hand calcium binding domain 3

Summary

Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants23 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11637713717:60,447,689G/T—benign
rs650410317:60,451,185G/C—benign
rs11459239417:60,464,702G/A—uncertain significance
rs990057117:60,468,379T/A——
rs76221927517:60,469,192A/G—uncertain significance
rs14728990117:60,469,196C/T—likely benign
rs207030574017:60,469,260G/A—uncertain significance
rs75458629317:60,469,284A/C—uncertain significance
rs250940634017:60,469,288A/G—uncertain significance
rs250940635817:60,469,291A/G—uncertain significance
rs6175198017:60,469,326C/T—likely benign
rs18931141817:60,470,939G/A—uncertain significance
rs15095202217:60,472,510C/T—uncertain significance
rs7332949017:60,472,551T/C—benign
rs57318531517:60,483,852G/A—uncertain significance
rs77658935917:60,483,897C/T—uncertain significance
rs75435052817:60,484,504G/A—uncertain significance
rs11504212817:60,484,520C/A—uncertain significance
rs807456617:60,485,399T/A——
rs77128683317:60,491,192G/A—uncertain significance
rs207054422417:60,493,373G/A—uncertain significance
rs75457114817:60,493,379G/A—uncertain significance
rs11580006617:60,493,482C/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.