Annotation Detail
Information
- Associated Genes
- CFTR LOC111674475
- Associated Variants
-
CFTR p.Gly542Ter (p.G542*)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Gly542Ter (p.G542*) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- cystic fibrosis
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) AND Cystic fibrosis
- ClinVar Allele ID
- 22154
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.1624G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-03-03
- Clinical Significance Review Status
- practice guideline
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007535
- ClinVar Disease
- Cystic fibrosis
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
- Observed Origin Sample
- paternal
- Observed Origin Sample
- unknown
- Pubmed
- 1377276
- Pubmed
- 9164051
- Pubmed
- 2236053
- Pubmed
- 9056552
- Pubmed
- 8528204
- Pubmed
- 2135388
Drugs