Annotation Detail
Information
- Associated Genes
- CFTR LOC111674472
- Associated Variants
-
CFTR p.Phe1052Val (p.F1052V)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Phe1052Val (p.F1052V) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) AND Hereditary pancreatitis
- ClinVar Allele ID
- 44529
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.3154T>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2022-02-15
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000770985
- ClinVar Disease
- Hereditary pancreatitis
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
Drugs