Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Lys751Gln (p.K751Q)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 ) - Associated Disease
- bone osteosarcoma
- Source Database
- ClinVar
- Description
- NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) AND Bone osteosarcoma
- ClinVar Allele ID
- 137844
- ClinVar RefSeq Alternation Syntax
- NM_000400.4:c.2251A>C
- Clinical Significance Description
- not provided
- Clinical Significance Last Update
- 2016-03-10
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000436606
- ClinVar Disease
- Bone osteosarcoma
- Observed Origin Sample
- somatic
Drugs