Annotation Detail
Information
- Associated Genes
- CFTR LOC111674472
- Associated Variants
-
CFTR p.Leu997Phe (p.L997F)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Leu997Phe (p.L997F) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- Pancreatitis, idiopathic, susceptibility to
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Pancreatitis, idiopathic, susceptibility to
- ClinVar Allele ID
- 22268
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.2991G>C
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2001-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007650
- ClinVar Disease
- Pancreatitis, idiopathic, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 10869121
- Pubmed
- 11168024
- Pubmed
- 10801389
- Pubmed
- 8605891
Drugs