Annotation Detail
Information
- Associated Genes
- DNMT3A
- Associated Variants
-
DNMT3A p.Arg882His (p.R882H)
(
ENST00000264709.7,
ENST00000321117.10,
ENST00000380746.8,
ENST00000402667.1,
ENST00000683760.1 )
DNMT3A p.Arg882His (p.R882H) ( ENST00000264709.7, ENST00000321117.10, ENST00000380746.8, ENST00000402667.1, ENST00000683760.1 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) AND Inborn genetic diseases
- ClinVar Allele ID
- 362760
- ClinVar RefSeq Alternation Syntax
- NM_001375819.1:c.1976G>A
- ClinVar RefSeq Alternation Syntax
- NM_175629.2:c.2645G>A
- ClinVar RefSeq Alternation Syntax
- NM_022552.5:c.2645G>A
- ClinVar RefSeq Alternation Syntax
- NM_153759.3:c.2078G>A
- ClinVar RefSeq Alternation Syntax
- NR_135490.2:n.3075G>A
- ClinVar RefSeq Alternation Syntax
- NM_001320893.1:c.2189G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-10-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000623601
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs