L274H (p.Leu274His) variant of KCNQ4 (P56696)
L274H (p.Leu274His) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 2A. The record also includes published literature and structural context.
L274H (p.Leu274His) variant details
- p.Leu274His
- rs80358276
- ClinGen CA340538
- ClinVar RCV000006625
- UniProt VAR 010936
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 2A
- Missense
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 2A)
- EBI: Pathogenic (in DFNA2A)
- UniProt: Pathogenic (in DFNA2A)
- Structural context available
- Cited in: Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore… (PMID 10925378)
- Cited in: Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. (PMID 20966080)