D124V (p.Asp124Val) variant of DNMT1 (P26358)
D124V (p.Asp124Val) 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 published literature and structural context.
D124V (p.Asp124Val) variant details
- p.Asp124Val
- rs2513892575
- ClinGen CA403946263
- ClinVar RCV003528882
- 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
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)