Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Ile807Met (p.I807M)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Ile807Met (p.I807M) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) AND not provided
- ClinVar Allele ID
- 44506
- ClinVar RefSeq Alternation Syntax
- NM_000492.4:c.2421A>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-11-09
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000725433
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs