Annotation Detail
Information
- Associated Genes
- ERCC1
- Associated Variants
-
ERCC1 c.-8+123G>T
(
ENST00000300853.8,
ENST00000340192.11,
ENST00000423698.6,
ENST00000589165.5 )
ERCC1 c.-8+123G>T ( ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001983.4(ERCC1):c.-8+123G>T AND not provided
- ClinVar Allele ID
- 1215347
- ClinVar RefSeq Alternation Syntax
- NM_001166049.2:c.-8+123G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369408.1:c.-8+165G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369412.1:c.-7-277G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369409.1:c.-8+123G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369418.1:c.-8+165G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369413.1:c.-7-277G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369410.1:c.-8+123G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369414.1:c.-7-277G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369417.1:c.-7-277G>T
- ClinVar RefSeq Alternation Syntax
- NM_001983.4:c.-8+123G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369415.1:c.-8+165G>T
- 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/RCV001614046
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs