Annotation Detail
Information
- Associated Genes
- DNMT1
- Associated Variants
-
DNMT1 p.Ile327Val (p.I327V)
(
ENST00000340748.8,
ENST00000359526.9,
ENST00000676610.1,
ENST00000677946.1,
ENST00000678804.1,
ENST00000679103.1,
ENST00000679313.1 )
DNMT1 p.Ile327Val (p.I327V) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 ) - Associated Disease
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Source Database
- ClinVar
- Description
- NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val) AND Hereditary sensory neuropathy-deafness-dementia syndrome
- ClinVar Allele ID
- 140836
- ClinVar RefSeq Alternation Syntax
- NM_001318730.2:c.931A>G
- ClinVar RefSeq Alternation Syntax
- NM_001379.4:c.931A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130823.3:c.979A>G
- ClinVar RefSeq Alternation Syntax
- NM_001318731.2:c.616A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000339574
- ClinVar Disease
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Observed Origin Sample
- germline
Drugs