G77V (p.Gly77Val) variant of DNMT1 (P26358)
G77V (p.Gly77Val) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary sensory neuropathy-deafness-dementia syndrome. The record also includes structural context.
G77V (p.Gly77Val) variant details
- p.Gly77Val
- TOPMed rs984728792
- gnomAD rs984728792
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available