Annotation Detail
Information
- Associated Genes
- F7
- Associated Variants
-
F7 p.Arg326Gln (p.R326Q)
(
ENST00000375581.3,
ENST00000346342.8,
ENST00000541084.5 )
F7 p.Arg326Gln (p.R326Q) ( ENST00000346342.8, ENST00000375581.3, ENST00000541084.5 ) - Associated Disease
- Congenital factor VII deficiency
- Source Database
- ClinVar
- Description
- NM_019616.4(F7):c.911G>A (p.Arg304Gln) AND Congenital factor VII deficiency
- ClinVar Allele ID
- 1676316
- ClinVar RefSeq Alternation Syntax
- NM_001267554.2:c.725G>A
- ClinVar RefSeq Alternation Syntax
- NM_019616.4:c.911G>A
- ClinVar RefSeq Alternation Syntax
- NR_051961.2:n.995G>A
- ClinVar RefSeq Alternation Syntax
- NM_000131.4:c.977G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002245393
- ClinVar Disease
- Congenital factor VII deficiency
- Observed Origin Sample
- unknown
Drugs