Annotation Detail
Information
- Associated Genes
- CASP8
- Associated Variants
-
CASP8 c.*464T>C
(
ENST00000323492.11,
ENST00000358485.8,
ENST00000413726.6,
ENST00000444430.3,
ENST00000673742.1,
ENST00000696067.1,
ENST00000696069.1,
ENST00000696085.1,
ENST00000696087.1 )
CASP8 c.*464T>C ( ENST00000323492.11, ENST00000358485.8, ENST00000413726.6, ENST00000444430.3, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 ) - Associated Disease
- autoimmune lymphoproliferative syndrome type 2B
- Source Database
- ClinVar
- Description
- NM_001372051.1(CASP8):c.*464T>C AND Autoimmune lymphoproliferative syndrome type 2B
- ClinVar Allele ID
- 283943
- ClinVar RefSeq Alternation Syntax
- NM_001400653.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400674.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400654.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400673.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400675.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400651.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400655.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400672.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400676.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NR_174585.1:n.2186T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400657.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400670.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400678.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400656.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400658.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400671.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400677.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NR_174592.1:n.2486T>C
- ClinVar RefSeq Alternation Syntax
- NR_174593.1:n.2284T>C
- ClinVar RefSeq Alternation Syntax
- NR_174600.1:n.2349T>C
- ClinVar RefSeq Alternation Syntax
- NM_001372051.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400659.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NR_174589.1:n.2118T>C
- ClinVar RefSeq Alternation Syntax
- NR_174595.1:n.2242T>C
- ClinVar RefSeq Alternation Syntax
- NR_174602.1:n.2144T>C
- ClinVar RefSeq Alternation Syntax
- NR_174581.1:n.2149T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400751.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400750.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NR_174586.1:n.2160T>C
- ClinVar RefSeq Alternation Syntax
- NR_174601.1:n.2274T>C
- ClinVar RefSeq Alternation Syntax
- NR_174583.1:n.2255T>C
- ClinVar RefSeq Alternation Syntax
- NR_174596.1:n.2079T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400642.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NR_174588.1:n.2323T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400663.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400664.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NR_174599.1:n.1821T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400661.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400662.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400665.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400666.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400660.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400667.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400668.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NR_174594.1:n.2327T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400680.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400645.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NR_174565.1:n.2123T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400669.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NM_001400648.1:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NR_174591.1:n.2141T>C
- ClinVar RefSeq Alternation Syntax
- NM_033356.4:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NR_174584.1:n.2168T>C
- ClinVar RefSeq Alternation Syntax
- NM_001080124.2:c.*464T>C
- ClinVar RefSeq Alternation Syntax
- NR_174590.1:n.2210T>C
- ClinVar RefSeq Alternation Syntax
- NR_174598.1:n.2437T>C
- ClinVar RefSeq Alternation Syntax
- NR_111983.2:n.2414T>C
- ClinVar RefSeq Alternation Syntax
- NR_174564.1:n.1993T>C
- ClinVar RefSeq Alternation Syntax
- NM_001080125.2:c.*464T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000301834
- ClinVar Disease
- Autoimmune lymphoproliferative syndrome type 2B
- Observed Origin Sample
- germline
Drugs