Annotation Detail
Information
- Associated Genes
- ITPA
- Associated Variants
-
ITPA c.124+21A>C
(
ENST00000380113.8,
ENST00000399838.3,
ENST00000455664.6 )
ITPA c.124+21A>C ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 ) - Associated Disease
- Developmental and epileptic encephalopathy, 35
- Source Database
- ClinVar
- Description
- NM_033453.4(ITPA):c.124+21A>C AND Developmental and epileptic encephalopathy, 35
- ClinVar Allele ID
- 29786
- ClinVar RefSeq Alternation Syntax
- NM_001324237.2:c.-214+21A>C
- ClinVar RefSeq Alternation Syntax
- NM_033453.4:c.124+21A>C
- ClinVar RefSeq Alternation Syntax
- NM_001324236.2:c.-274-11A>C
- ClinVar RefSeq Alternation Syntax
- NM_001351739.2:c.-274-11A>C
- ClinVar RefSeq Alternation Syntax
- NM_001267623.2:c.67-738A>C
- ClinVar RefSeq Alternation Syntax
- NM_001324238.2:c.-274-11A>C
- ClinVar RefSeq Alternation Syntax
- NM_181493.4:c.73+21A>C
- ClinVar RefSeq Alternation Syntax
- NM_001324240.2:c.124+21A>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001730474
- ClinVar Disease
- Developmental and epileptic encephalopathy, 35
- Observed Origin Sample
- germline
Drugs