M1I (p.Met1Ile) variant of SIX1 (Homeobox protein SIX1)
M1I (p.Met1Ile) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant nonsyndromic hearing loss 23; Branchiootic syndrome 3. The record also includes experimental measurements, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2502645118
- ClinGen CA389911254
- ClinVar RCV002871248
- Uncertain significance
- Autosomal dominant nonsyndromic hearing loss 23; Branchiootic syndrome 3
- Missense
- ClinVar: Uncertain significance (Autosomal dominant nonsyndromic hearing loss 23; Branchiootic sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.0501
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)