Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Arg334Trp (p.R334W)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699596.1,
ENST00000699597.1,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Arg334Trp (p.R334W) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- Congenital bilateral aplasia of vas deferens from CFTR mutation cystic fibrosis
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) AND multiple conditions
- ClinVar Allele ID
- 22178
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.1000C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001004246
- ClinVar Disease
- Congenital bilateral aplasia of vas deferens from CFTR mutation
- ClinVar Disease
- Cystic fibrosis
- Observed Origin Sample
- germline
Drugs