Annotation Detail
Information
- Associated Genes
- CASP8
- Associated Variants
-
CASP8 c.*845T>A
(
ENST00000323492.11,
ENST00000358485.8,
ENST00000413726.6,
ENST00000444430.3,
ENST00000673742.1,
ENST00000696067.1,
ENST00000696069.1,
ENST00000696085.1,
ENST00000696087.1 )
CASP8 c.*845T>A ( 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.*845T>A AND Autoimmune lymphoproliferative syndrome type 2B
- ClinVar Allele ID
- 287012
- ClinVar RefSeq Alternation Syntax
- NR_174595.1:n.2623T>A
- ClinVar RefSeq Alternation Syntax
- NR_174584.1:n.2549T>A
- ClinVar RefSeq Alternation Syntax
- NR_174590.1:n.2591T>A
- ClinVar RefSeq Alternation Syntax
- NR_174600.1:n.2730T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400659.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400678.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NR_111983.2:n.2795T>A
- ClinVar RefSeq Alternation Syntax
- NR_174593.1:n.2665T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400656.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400658.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400751.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400657.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400750.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400642.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400674.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400654.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400663.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NR_174596.1:n.2460T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400665.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400672.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400676.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400666.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400673.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400677.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400651.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400655.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400662.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NR_174583.1:n.2636T>A
- ClinVar RefSeq Alternation Syntax
- NR_174588.1:n.2704T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400664.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400675.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400653.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400670.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NR_174594.1:n.2708T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400680.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400661.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NR_174589.1:n.2499T>A
- ClinVar RefSeq Alternation Syntax
- NR_174586.1:n.2541T>A
- ClinVar RefSeq Alternation Syntax
- NR_174602.1:n.2525T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400671.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400660.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NR_174601.1:n.2655T>A
- ClinVar RefSeq Alternation Syntax
- NM_001080125.2:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NR_174598.1:n.2818T>A
- ClinVar RefSeq Alternation Syntax
- NR_174581.1:n.2530T>A
- ClinVar RefSeq Alternation Syntax
- NM_001080124.2:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400648.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400669.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400667.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NR_174591.1:n.2522T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400645.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NR_174565.1:n.2504T>A
- ClinVar RefSeq Alternation Syntax
- NM_001400668.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NR_174564.1:n.2374T>A
- ClinVar RefSeq Alternation Syntax
- NR_174585.1:n.2567T>A
- ClinVar RefSeq Alternation Syntax
- NR_174599.1:n.2202T>A
- ClinVar RefSeq Alternation Syntax
- NM_033356.4:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NM_001372051.1:c.*845T>A
- ClinVar RefSeq Alternation Syntax
- NR_174592.1:n.2867T>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000407891
- ClinVar Disease
- Autoimmune lymphoproliferative syndrome type 2B
- Observed Origin Sample
- germline
Drugs