A178T (p.Ala178Thr) variant of SCN5A (Q14524)
A178T (p.Ala178Thr) in SCN5A (Q14524) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in BRGDA1. The record also includes structural context.
A178T (p.Ala178Thr) variant details
- p.Ala178Thr
- NCI-TCGA Cosmic COSV6113
- cosmic curated COSV61134
- Uncertain significance
- in BRGDA1
- Missense
- EBI: uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Structural context available