Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 c.1238-1492T>C
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000485403.6,
ENST00000684407.1 )
ERCC2 c.1238-1492T>C ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000400.4(ERCC2):c.1238-1492T>C AND not provided
- ClinVar Allele ID
- 1277525
- ClinVar RefSeq Alternation Syntax
- NM_001130867.2:c.1166-279T>C
- ClinVar RefSeq Alternation Syntax
- NM_000400.4:c.1238-1492T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001710820
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs