Annotation Detail
Information
- Associated Genes
- F7
- Associated Variants
-
F7 p.Pro464HisfsTer32 (p.P464Hfs*32)
(
ENST00000375581.3,
ENST00000346342.8,
ENST00000541084.5 )
F7 p.Pro464HisfsTer32 (p.P464Hfs*32) ( ENST00000346342.8, ENST00000375581.3, ENST00000541084.5 ) - Associated Disease
- Myocardial infarction, susceptibility to Congenital factor VII deficiency
- Source Database
- ClinVar
- Description
- NM_019616.4(F7):c.1325del (p.Pro442fs) AND multiple conditions
- ClinVar Allele ID
- 615535
- ClinVar RefSeq Alternation Syntax
- NM_001267554.2:c.1139del
- ClinVar RefSeq Alternation Syntax
- NR_051961.2:n.1409del
- ClinVar RefSeq Alternation Syntax
- NM_000131.4:c.1391del
- ClinVar RefSeq Alternation Syntax
- NM_019616.4:c.1325del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-05-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002507337
- ClinVar Disease
- Myocardial infarction, susceptibility to
- ClinVar Disease
- Congenital factor VII deficiency
- Observed Origin Sample
- unknown
Drugs