rs747392248

This variant is located in the EFCAB7 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About EFCAB7

Predicted to enable calcium ion binding activity. Predicted to be involved in positive regulation of protein import into nucleus; positive regulation of protein localization to ciliary membrane; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasmic side of plasma membrane. Predicted to be part of plasma membrane protein complex. Predicted to be active in ciliary membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all EFCAB7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…