K114E (p.Lys114Glu) variant of SIX1 (Homeobox protein SIX1)
K114E (p.Lys114Glu) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23. The record also includes published literature and structural context.
K114E (p.Lys114Glu) variant details
- p.Lys114Glu
- rs2502644085
- ClinGen CA389910525
- ClinVar RCV003810275
- Pathogenic
- Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23
- Missense
- ClinVar: Pathogenic (Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)