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
not provided
Source Database
ClinVar
Description
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) AND not provided
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
Pathogenic/Likely pathogenic
Clinical Significance Last Update
2021-08-30
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000433567
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs