Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Leu461Val (p.L461V)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Leu461Val (p.L461V) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 ) - Associated Disease
- Xeroderma pigmentosum, group D
- Source Database
- ClinVar
- Description
- NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) AND Xeroderma pigmentosum, group D
- ClinVar Allele ID
- 31818
- ClinVar RefSeq Alternation Syntax
- NM_000400.4:c.1381C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-05-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018267
- ClinVar Disease
- Xeroderma pigmentosum, group D
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 8571952
- Pubmed
- 9195225
- Pubmed
- 7849702
Drugs