Annotation Detail
Information
- Associated Genes
- CFTR LOC111674475
- Associated Variants
-
CFTR p.Arg553Gly (p.R553G)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Arg553Gly (p.R553G) ( 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.1657C>G (p.Arg553Gly) AND Cystic fibrosis
- ClinVar Allele ID
- 67990
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.1657C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-07-23
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000577731
- ClinVar Disease
- Cystic fibrosis
- Observed Origin Sample
- germline
Drugs