Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Arg117Leu (p.R117L)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699596.1,
ENST00000699597.1,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Arg117Leu (p.R117L) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- Bronchiectasis with or without elevated sweat chloride 1
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) AND Bronchiectasis with or without elevated sweat chloride 1
- ClinVar Allele ID
- 68433
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.350G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-09-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003474583
- ClinVar Disease
- Bronchiectasis with or without elevated sweat chloride 1
- Observed Origin Sample
- unknown
Drugs