Annotation Detail
Information
- Associated Genes
- ERCC1
- Associated Variants
-
ERCC1 p.Asn118= (p.N118=)
(
ENST00000013807.9,
ENST00000300853.8,
ENST00000340192.11,
ENST00000423698.6,
ENST00000589165.5,
ENST00000591636.5 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001983.4(ERCC1):c.354T>C (p.Asn118=) AND not provided
- ClinVar Allele ID
- 227808
- ClinVar RefSeq Alternation Syntax
- NM_001369415.1:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001166049.2:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369417.1:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369412.1:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369410.1:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369409.1:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369413.1:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369419.1:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369416.1:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369408.1:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369411.1:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369414.1:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001983.4:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_202001.3:c.354T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369418.1:c.354T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001682921
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs