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 )
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_000492.3(CFTR):c.[350G>A;1210-12[5]] AND Cystic fibrosis
- ClinVar Allele ID
- 22148
- ClinVar Allele ID
- 205614
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.350G>A
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.1210-7_1210-6del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000190992
- ClinVar Disease
- Cystic fibrosis
- Observed Origin Sample
- germline
Drugs