Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Gln134Ter (p.Q134*)
(
ENST00000403665.7,
ENST00000492972.6 )
F11 p.Gln134Ter (p.Q134*) ( ENST00000403665.7, ENST00000492972.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.400C>T (p.Gln134Ter) AND not provided
- ClinVar Allele ID
- 186682
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.400C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354804.2:c.400C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-08-29
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000726287
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs