Annotation Detail
Information
- Associated Genes
- TYK2
- Associated Variants
-
TYK2 p.Pro1104Ala (p.P1104A)
(
ENST00000524462.5,
ENST00000525621.6,
ENST00000525976.6,
ENST00000531836.6,
ENST00000699360.1,
ENST00000699365.1 )
TYK2 p.Pro1104Ala (p.P1104A) ( ENST00000524462.5, ENST00000525621.6, ENST00000525976.6, ENST00000531836.6, ENST00000699360.1, ENST00000699365.1 ) - Associated Disease
- immunodeficiency 35
- Source Database
- ClinVar
- Description
- NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) AND Immunodeficiency 35
- ClinVar Allele ID
- 141572
- ClinVar RefSeq Alternation Syntax
- NM_003331.5:c.3310C>G
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000528354
- ClinVar Disease
- Immunodeficiency 35
- Observed Origin Sample
- germline
- Pubmed
- 33667394
- Pubmed
- 30578352
Drugs