N100Y (p.Asn100Tyr) variant of DNMT1 (P26358)
N100Y (p.Asn100Tyr) 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.
N100Y (p.Asn100Tyr) variant details
- p.Asn100Tyr
- rs2513892895
- ClinGen CA403946576
- ClinVar RCV003857530
- 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)