Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Gln1352His (p.Q1352H)
(
ENST00000003084.11,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Gln1352His (p.Q1352H) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) AND not specified
- ClinVar Allele ID
- 22276
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.4056G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-12-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001375489
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs