Annotation Detail
Information
- Associated Genes
- DPYD
- Associated Variants
-
DPYD c.1905+1G>A
(
ENST00000370192.8 )
DPYD c.1905+1G>A ( ENST00000370192.8 ) - Associated Disease
- Global developmental delay intellectual disability Macroglossia Autism Cognitive impairment
- Source Database
- ClinVar
- Description
- NM_000110.4(DPYD):c.1905+1G>A AND multiple conditions
- ClinVar Allele ID
- 15471
- ClinVar RefSeq Alternation Syntax
- NM_000110.4:c.1905+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000735355
- ClinVar Disease
- Autism
- ClinVar Disease
- Global developmental delay
- ClinVar Disease
- Intellectual disability
- ClinVar Disease
- Macroglossia
- ClinVar Disease
- Cognitive impairment
- Observed Origin Sample
- germline
Drugs