Annotation Detail
Information
- Associated Genes
- ERCC5 BIVM-ERCC5
- Associated Variants
-
BIVM-ERCC5 c.1451-6093T>C
(
ENST00000639435.1,
ENST00000652613.1,
ENST00000639132.1 )
BIVM-ERCC5 c.1451-6093T>C ( ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 ) - Associated Disease
- Xeroderma pigmentosum, group G
- Source Database
- ClinVar
- Description
- NM_000123.3(ERCC5):c.-242T>C AND Xeroderma pigmentosum, group G
- ClinVar Allele ID
- 318811
- ClinVar RefSeq Alternation Syntax
- NM_001204425.2:c.1451-6093T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000278463
- ClinVar Disease
- Xeroderma pigmentosum, group G
- Observed Origin Sample
- germline
Drugs