Annotation Detail
Information
- Associated Genes
- DNMT1
- Associated Variants
-
DNMT1 p.Pro463= (p.P463=)
(
ENST00000340748.8,
ENST00000359526.9,
ENST00000676610.1,
ENST00000677946.1,
ENST00000678804.1,
ENST00000679103.1,
ENST00000679313.1 )
DNMT1 p.Pro463= (p.P463=) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=) AND not provided
- ClinVar Allele ID
- 256733
- ClinVar RefSeq Alternation Syntax
- NM_001318731.2:c.1026A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130823.3:c.1389A>G
- ClinVar RefSeq Alternation Syntax
- NM_001379.4:c.1341A>G
- ClinVar RefSeq Alternation Syntax
- NM_001318730.2:c.1341A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-03-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001618408
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs