Annotation Detail
Information
- Associated Genes
- CFTR LOC111674472
- Associated Variants
-
CFTR p.Arg1070Pro (p.R1070P)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Arg1070Pro (p.R1070P) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- cystic fibrosis
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro) AND Cystic fibrosis
- ClinVar Allele ID
- 68354
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.3209G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-06-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000577217
- ClinVar Disease
- Cystic fibrosis
- Observed Origin Sample
- germline
Drugs