Annotation Detail
Information
- Associated Genes
- F7
- Associated Variants
-
F7 p.Gln160Arg (p.Q160R)
(
ENST00000346342.8,
ENST00000541084.5,
ENST00000375581.3 )
F7 p.Gln160Arg (p.Q160R) ( ENST00000346342.8, ENST00000375581.3, ENST00000541084.5 ) - Associated Disease
- Congenital factor VII deficiency
- Source Database
- ClinVar
- Description
- NM_019616.4(F7):c.413A>G (p.Gln138Arg) AND Congenital factor VII deficiency
- ClinVar Allele ID
- 615524
- ClinVar RefSeq Alternation Syntax
- NM_019616.4:c.413A>G
- ClinVar RefSeq Alternation Syntax
- NM_001267554.2:c.227A>G
- ClinVar RefSeq Alternation Syntax
- NM_000131.4:c.479A>G
- ClinVar RefSeq Alternation Syntax
- NR_051961.2:n.497A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002222629
- ClinVar Disease
- Congenital factor VII deficiency
- Observed Origin Sample
- unknown
Drugs