Annotation Detail
Information
- Associated Genes
- CASP8
- Associated Variants
-
CASP8 p.Asp344His (p.D344H)
(
ENST00000264275.9,
ENST00000323492.11,
ENST00000358485.8,
ENST00000392263.6,
ENST00000413726.6,
ENST00000432109.6,
ENST00000440732.6,
ENST00000444430.3,
ENST00000450491.6,
ENST00000673742.1,
ENST00000696067.1,
ENST00000696069.1,
ENST00000696085.1,
ENST00000696087.1 )
CASP8 p.Asp344His (p.D344H) ( ENST00000264275.9, ENST00000323492.11, ENST00000358485.8, ENST00000392263.6, ENST00000413726.6, ENST00000432109.6, ENST00000440732.6, ENST00000444430.3, ENST00000450491.6, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 ) - Associated Disease
- neuroblastoma
- Source Database
- CIViC Evidence
- Description
- 21 SNPs were analyzed using qRT-PCR genotyping assays in 500 Neuroblastoma tumor samples, and the CASP8 D302H missense variant was found to be associated with worse overall survival (P = 0.0006; Q = 0.049) and worse event-free survival (P = 0.0002; Q = 0.042) in those samples that had MYCN amplification (N = 94).
- Variant Origin
- Common Germline
- Variant Origin
- Common Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1654
- Gene URL
- https://civic.genome.wustl.edu/links/genes/761
- Variant URL
- https://civic.genome.wustl.edu/links/variants/650
- Rating
- 3
- Evidence Type
- Prognostic
- Disease
- Neuroblastoma
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 25502557
Drugs