Annotation Detail
Information
- Associated Genes
- DNMT3A
- Associated Variants
-
DNMT3A p.Arg882Pro (p.R882P)
(
ENST00000402667.1,
ENST00000683760.1,
ENST00000321117.10,
ENST00000380746.8,
ENST00000264709.7 )
DNMT3A p.Arg882Pro (p.R882P) ( ENST00000264709.7, ENST00000321117.10, ENST00000380746.8, ENST00000402667.1, ENST00000683760.1 ) - Associated Disease
- myelodysplastic syndrome
- Source Database
- ClinVar
- Description
- NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro) AND Myelodysplastic syndrome
- ClinVar Allele ID
- 362759
- ClinVar RefSeq Alternation Syntax
- NM_001375819.1:c.1976G>C
- ClinVar RefSeq Alternation Syntax
- NM_022552.5:c.2645G>C
- ClinVar RefSeq Alternation Syntax
- NM_175629.2:c.2645G>C
- ClinVar RefSeq Alternation Syntax
- NM_153759.3:c.2078G>C
- ClinVar RefSeq Alternation Syntax
- NR_135490.2:n.3075G>C
- ClinVar RefSeq Alternation Syntax
- NM_001320893.1:c.2189G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000427788
- ClinVar Disease
- Myelodysplastic syndrome
- Observed Origin Sample
- somatic
Drugs