Annotation Detail
Information
- Associated Genes
- CFTR CFTR-AS1
- Associated Variants
-
CFTR c.1210-7_1210-6delTT
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699596.1,
ENST00000699597.1,
ENST00000699602.1,
ENST00000699605.1 )
CFTR c.1210-7_1210-6delTT ( 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
- Source Database
- ClinVar
- Description
- NM_000492.3(CFTR):c.1210-12T[5] AND Congenital bilateral aplasia of vas deferens from CFTR mutation
- ClinVar Allele ID
- 205614
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.1210-7_1210-6del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007609
- ClinVar Disease
- Congenital bilateral aplasia of vas deferens from CFTR mutation
- Observed Origin Sample
- germline
- Pubmed
- 18507830
- Pubmed
- 7684646
- Pubmed
- 2344617
- Pubmed
- 8556303
- Pubmed
- 14993601
- Pubmed
- 7506096
- Pubmed
- 14685937
- Pubmed
- 7573058
Drugs