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
- not specified
- Source Database
- ClinVar
- Description
- NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) AND not specified
- ClinVar Allele ID
- 141572
- ClinVar RefSeq Alternation Syntax
- NM_003331.5:c.3310C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2014-04-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000126195
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs