Annotation Detail
Information
- Associated Genes
- CFTR CFTR-AS1
- Associated Variants
-
CFTR p.Phe508del (p.F508del)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699596.1,
ENST00000699597.1,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Phe508del (p.F508del) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- ClinVar
- Description
- NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND Hereditary pancreatitis
- ClinVar Allele ID
- 22144
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.1521_1523del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-03-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000119038
- ClinVar Disease
- Hereditary pancreatitis
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs