Annotation Detail
Information
- Associated Genes
- DNMT3A
- Associated Variants
-
DNMT3A p.Arg635Trp (p.R635W)
(
ENST00000264709.7,
ENST00000321117.10,
ENST00000380746.8,
ENST00000402667.1,
ENST00000683760.1 )
DNMT3A p.Arg635Trp (p.R635W) ( ENST00000264709.7, ENST00000321117.10, ENST00000380746.8, ENST00000402667.1, ENST00000683760.1 ) - Associated Disease
- Tatton-Brown-Rahman overgrowth syndrome acute myeloid leukemia Heyn-Sproul-Jackson syndrome
- Source Database
- ClinVar
- Description
- NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) AND multiple conditions
- ClinVar Allele ID
- 269141
- ClinVar RefSeq Alternation Syntax
- NM_153759.3:c.1336C>T
- ClinVar RefSeq Alternation Syntax
- NM_001320893.1:c.1447C>T
- ClinVar RefSeq Alternation Syntax
- NM_001375819.1:c.1234C>T
- ClinVar RefSeq Alternation Syntax
- NM_175629.2:c.1903C>T
- ClinVar RefSeq Alternation Syntax
- NM_022552.5:c.1903C>T
- ClinVar RefSeq Alternation Syntax
- NR_135490.2:n.2134C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003883148
- ClinVar Disease
- Heyn-Sproul-Jackson syndrome
- ClinVar Disease
- Tatton-Brown-Rahman overgrowth syndrome
- ClinVar Disease
- Acute myeloid leukemia
- Observed Origin Sample
- de novo
Drugs