Annotation Detail
Information
- Associated Genes
- CFTR LOC111674475
- Associated Variants
-
CFTR p.Arg553Ter (p.R553*)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Arg553Ter (p.R553*) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- CFTR-related disorder
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) AND CFTR-related disorder
- ClinVar Allele ID
- 22161
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.1657C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001831525
- ClinVar Disease
- CFTR-related disorder
- Observed Origin Sample
- germline
Drugs