Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Arg117His (p.R117H)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699596.1,
ENST00000699597.1,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Arg117His (p.R117H) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- cystic fibrosis
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND Cystic fibrosis
- ClinVar Disease
- Cystic fibrosis
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
- Observed Origin Sample
- unknown
- Observed Origin Sample
- paternal
- Pubmed
- 7692051
- Pubmed
- 8421472
- Pubmed
- 2349952
- Pubmed
- 11746017
- Pubmed
- 19880712
- Pubmed
- 1937486
- Pubmed
- 7506096
- ClinVar Allele ID
- 22148
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.350G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-03-03
- Clinical Significance Review Status
- practice guideline
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007528
Drugs