G277R (p.Gly277Arg) variant of KCNQ4 (P56696)
G277R (p.Gly277Arg) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monogenic hearing loss. The record also includes published literature and structural context.
G277R (p.Gly277Arg) variant details
- p.Gly277Arg
- rs727504459
- ClinGen CA182793
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10071
- Likely pathogenic
- Monogenic hearing loss
- Missense
- ClinVar: Likely pathogenic (Monogenic hearing loss)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DFNA2 Nonsyndromic Hearing Loss. (PMID 20301388)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)