G17C (p.Gly17Cys) variant of ASH1L (Q9NR48)
G17C (p.Gly17Cys) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal dominant 52.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- cosmic curated COSV10819
- Uncertain significance
- Intellectual disability, autosomal dominant 52
- Missense
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 52)
- UniProt: Uncertain significance