R9G (p.Arg9Gly) variant of DNMT1 (P26358)
R9G (p.Arg9Gly) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary sensory neuropathy-deafness-dementia syndrome. The record also includes structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- TOPMed rs2039376099
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- UniProt: Uncertain significance
- Structural context available