Annotation Detail
Information
- Associated Genes
- DPYD
- Associated Variants
-
DPYD c.1905+1G>A
(
ENST00000370192.8 )
DPYD c.1905+1G>A ( ENST00000370192.8 ) - Associated Disease
- Hirschsprung disease, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_000110.4(DPYD):c.1905+1G>A AND Hirschsprung disease, susceptibility to, 1
- ClinVar Allele ID
- 15471
- ClinVar RefSeq Alternation Syntax
- NM_000110.4:c.1905+1G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2015-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000201291
- ClinVar Disease
- Hirschsprung disease, susceptibility to, 1
- Observed Origin Sample
- germline
Drugs