G760E (p.Gly760Glu) variant of DNMT1 (P26358)
G760E (p.Gly760Glu) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hereditary sensory neuropathy-deafness-dementia syndrome. The record also includes structural context.
G760E (p.Gly760Glu) variant details
- p.Gly760Glu
- cosmic curated COSV10053
- Likely pathogenic
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- ClinVar: Likely pathogenic (Hereditary sensory neuropathy-deafness-dementia syndrome)
- UniProt: Likely pathogenic
- Structural context available