G17S (p.Gly17Ser) variant of ASH1L (Q9NR48)
G17S (p.Gly17Ser) 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.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10085
- Uncertain significance
- Intellectual disability, autosomal dominant 52
- Missense
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 52)
- UniProt: Uncertain significance