S47C (p.Ser47Cys) variant of TECTA (Alpha-tectorin)
S47C (p.Ser47Cys) in TECTA (Alpha-tectorin) 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 12. The record also includes published literature and structural context.
S47C (p.Ser47Cys) variant details
- p.Ser47Cys
- rs2496886199
- ClinGen CA383020161
- ClinVar RCV003330274
- Uncertain significance
- Autosomal dominant nonsyndromic hearing loss 12
- Missense
- ClinVar: Uncertain significance (Autosomal dominant nonsyndromic hearing loss 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)