Annotation Detail
Information
- Associated Genes
- CFTR LOC111674472
- Associated Variants
-
CFTR p.Arg1070Gln (p.R1070Q)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Arg1070Gln (p.R1070Q) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) AND ivacaftor response - Efficacy
- ClinVar Allele ID
- 44530
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.3209G>A
- Clinical Significance Description
- drug response
- Clinical Significance Last Update
- 2021-03-24
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000660859
- Observed Origin Sample
- germline
Drugs