Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Gly1349Asp (p.G1349D)
(
ENST00000003084.11,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Gly1349Asp (p.G1349D) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- cystic fibrosis
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) AND Cystic fibrosis
- ClinVar Allele ID
- 44545
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.4046G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-03-17
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000029536
- ClinVar Disease
- Cystic fibrosis
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs