Annotation Detail
Information
- Associated Genes
- XPA
- Associated Variants
-
XPA p.Glu147= (p.E147=)
(
ENST00000375128.5 )
XPA p.Glu147= (p.E147=) ( ENST00000375128.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000380.4(XPA):c.441A>G (p.Glu147=) AND not provided
- ClinVar Allele ID
- 1120030
- ClinVar RefSeq Alternation Syntax
- NR_027302.2:n.489A>G
- ClinVar RefSeq Alternation Syntax
- NR_149094.2:n.383A>G
- ClinVar RefSeq Alternation Syntax
- NR_149093.2:n.489A>G
- ClinVar RefSeq Alternation Syntax
- NM_000380.4:c.441A>G
- ClinVar RefSeq Alternation Syntax
- NR_149092.2:n.383A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354975.2:c.315A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2020-08-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001476729
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs