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
- Breast cancer, protection against
- Source Database
- ClinVar
- Description
- NM_001372051.1(CASP8):c.853G>C (p.Asp285His) AND Breast cancer, protection against
- ClinVar Allele ID
- 22801
- ClinVar RefSeq Alternation Syntax
- NM_033355.4:c.853G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400658.1:c.808G>C
- ClinVar RefSeq Alternation Syntax
- NR_174565.1:n.1072G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400676.1:c.211G>C
- ClinVar RefSeq Alternation Syntax
- NM_001228.5:c.904G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400653.1:c.853G>C
- ClinVar RefSeq Alternation Syntax
- NR_174590.1:n.1159G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400663.1:c.808G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400664.1:c.784G>C
- ClinVar RefSeq Alternation Syntax
- NR_174583.1:n.1204G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400648.1:c.853G>C
- ClinVar RefSeq Alternation Syntax
- NR_174586.1:n.1109G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400667.1:c.601G>C
- ClinVar RefSeq Alternation Syntax
- NR_174600.1:n.1298G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400666.1:c.646G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400680.1:c.238G>C
- ClinVar RefSeq Alternation Syntax
- NR_174594.1:n.1276G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400672.1:c.256G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400655.1:c.853G>C
- ClinVar RefSeq Alternation Syntax
- NM_001080125.2:c.1030G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400668.1:c.601G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400675.1:c.211G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400642.1:c.985G>C
- ClinVar RefSeq Alternation Syntax
- NR_111983.2:n.1363G>C
- ClinVar RefSeq Alternation Syntax
- NR_174595.1:n.1191G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400656.1:c.853G>C
- ClinVar RefSeq Alternation Syntax
- NR_174598.1:n.1386G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400673.1:c.256G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400671.1:c.256G>C
- ClinVar RefSeq Alternation Syntax
- NR_174585.1:n.1135G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400661.1:c.808G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400669.1:c.544G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400657.1:c.853G>C
- ClinVar RefSeq Alternation Syntax
- NR_174592.1:n.1435G>C
- ClinVar RefSeq Alternation Syntax
- NR_174593.1:n.1233G>C
- ClinVar RefSeq Alternation Syntax
- NR_174588.1:n.1272G>C
- ClinVar RefSeq Alternation Syntax
- NM_001372051.1:c.853G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400677.1:c.211G>C
- ClinVar RefSeq Alternation Syntax
- NR_174602.1:n.1093G>C
- ClinVar RefSeq Alternation Syntax
- NR_174564.1:n.942G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400654.1:c.853G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400665.1:c.778G>C
- ClinVar RefSeq Alternation Syntax
- NR_174596.1:n.1028G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400751.1:c.211G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400670.1:c.803-397G>C
- ClinVar RefSeq Alternation Syntax
- NR_174599.1:n.770G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400662.1:c.808G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400651.1:c.853G>C
- ClinVar RefSeq Alternation Syntax
- NR_174589.1:n.1067G>C
- ClinVar RefSeq Alternation Syntax
- NR_174601.1:n.1223G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400674.1:c.238G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400645.1:c.886G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400660.1:c.808G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400678.1:c.211G>C
- ClinVar RefSeq Alternation Syntax
- NM_001080124.2:c.808G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400659.1:c.808G>C
- ClinVar RefSeq Alternation Syntax
- NM_001400750.1:c.256G>C
- ClinVar RefSeq Alternation Syntax
- NM_033356.4:c.808G>C
- ClinVar RefSeq Alternation Syntax
- NR_174584.1:n.1117G>C
- ClinVar RefSeq Alternation Syntax
- NR_174581.1:n.1098G>C
- ClinVar RefSeq Alternation Syntax
- NR_174591.1:n.1090G>C
- Clinical Significance Description
- protective
- Clinical Significance Last Update
- 2007-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008203
- ClinVar Disease
- Breast cancer, protection against
- Observed Origin Sample
- germline
- Pubmed
- 15998955
- Pubmed
- 15601643
- Pubmed
- 17293864
Drugs