G17D (p.Gly17Asp) variant of ASH1L (Q9NR48)
G17D (p.Gly17Asp) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10085
- Ensembl rs1668884567
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance