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/Tbenign
rs650410317:60,451,185G/Cbenign
rs11459239417:60,464,702G/Auncertain significance
rs990057117:60,468,379T/A
rs76221927517:60,469,192A/Guncertain significance
rs14728990117:60,469,196C/Tlikely benign
rs207030574017:60,469,260G/Auncertain significance
rs75458629317:60,469,284A/Cuncertain significance
rs250940634017:60,469,288A/Guncertain significance
rs250940635817:60,469,291A/Guncertain significance
rs6175198017:60,469,326C/Tlikely benign
rs18931141817:60,470,939G/Auncertain significance
rs15095202217:60,472,510C/Tuncertain significance
rs7332949017:60,472,551T/Cbenign
rs57318531517:60,483,852G/Auncertain significance
rs77658935917:60,483,897C/Tuncertain significance
rs75435052817:60,484,504G/Auncertain significance
rs11504212817:60,484,520C/Auncertain significance
rs807456617:60,485,399T/A
rs77128683317:60,491,192G/Auncertain significance
rs207054422417:60,493,373G/Auncertain significance
rs75457114817:60,493,379G/Auncertain significance
rs11580006617:60,493,482C/Tbenign

Gene information from NCBI Gene. Variant classifications from ClinVar.