Annotation Detail
Information
- Associated Genes
- BTK
- Associated Variants
-
BTK p.Cys515Ser (p.C515S)
(
ENST00000308731.8,
ENST00000621635.4,
ENST00000695614.1,
ENST00000695615.1,
ENST00000695617.1,
ENST00000695622.1,
ENST00000695623.1,
ENST00000695625.1,
ENST00000703407.1 )
BTK p.Cys515Ser (p.C515S) ( ENST00000308731.8, ENST00000621635.4, ENST00000695614.1, ENST00000695615.1, ENST00000695617.1, ENST00000695622.1, ENST00000695623.1, ENST00000695625.1, ENST00000703407.1 ) - Associated Disease
- B-cell chronic lymphocytic leukemia
- Source Database
- ClinVar
- Description
- NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) AND B-cell chronic lymphocytic leukemia
- ClinVar Allele ID
- 363083
- ClinVar RefSeq Alternation Syntax
- NM_001287344.2:c.1543T>A
- ClinVar RefSeq Alternation Syntax
- NM_001287345.2:c.1039-1483T>A
- ClinVar RefSeq Alternation Syntax
- NM_000061.3:c.1441T>A
- 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/RCV000420001
- ClinVar Disease
- B-cell chronic lymphocytic leukemia
- Observed Origin Sample
- somatic
Drugs