Annotation Detail
Information
- Associated Genes
- CTLA4
- Associated Variants
-
CTLA4 p.Thr17Ala (p.T17A)
(
ENST00000295854.10,
ENST00000487393.1,
ENST00000648405.2,
ENST00000696049.1,
ENST00000696479.1 )
CTLA4 p.Thr17Ala (p.T17A) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND not provided
- ClinVar Allele ID
- 31960
- ClinVar RefSeq Alternation Syntax
- NM_001037631.3:c.49A>G
- ClinVar RefSeq Alternation Syntax
- NM_005214.5:c.49A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001723578
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs