Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Trp1316Ter (p.W1316*)
(
ENST00000003084.11,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Trp1316Ter (p.W1316*) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- cystic fibrosis
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.3947G>A (p.Trp1316Ter) AND Cystic fibrosis
- ClinVar Allele ID
- 22172
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.3947G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1990-12-13
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007553
- ClinVar Disease
- Cystic fibrosis
- Observed Origin Sample
- germline
- Pubmed
- 2233965
Drugs