Annotation Detail
Information
- Associated Genes
- XPA
- Associated Variants
-
XPA c.-4A>G
(
ENST00000375128.5 )
XPA c.-4A>G ( ENST00000375128.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000380.4(XPA):c.-4A>G AND not provided
- ClinVar Allele ID
- 187985
- ClinVar RefSeq Alternation Syntax
- NM_001354975.2:c.-1153A>G
- ClinVar RefSeq Alternation Syntax
- NR_149093.2:n.45A>G
- ClinVar RefSeq Alternation Syntax
- NR_149094.2:n.45A>G
- ClinVar RefSeq Alternation Syntax
- NM_000380.4:c.-4A>G
- ClinVar RefSeq Alternation Syntax
- NR_149091.2:n.45A>G
- ClinVar RefSeq Alternation Syntax
- NR_027302.2:n.45A>G
- ClinVar RefSeq Alternation Syntax
- NR_149092.2:n.45A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001509817
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs