Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Gly576Ala (p.G576A)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Arg668Cys (p.R668C) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Gly576Ala (p.G576A) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Arg668Cys (p.R668C) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.[1727G>C;2002C>T] AND not specified
- ClinVar Allele ID
- 44499
- ClinVar Allele ID
- 22204
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.2002C>T
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.1727G>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-04-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001172493
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs