Annotation Detail
Information
- Associated Genes
- F7 F10
- Associated Variants
-
F7 p.Arg413Gln (p.R413Q)
(
ENST00000541084.5,
ENST00000346342.8,
ENST00000375581.3 )
F7 p.Arg413Gln (p.R413Q) ( ENST00000346342.8, ENST00000375581.3, ENST00000541084.5 ) - Associated Disease
- Myocardial infarction, decreased susceptibility to
- Source Database
- ClinVar
- Description
- NM_019616.4(F7):c.1172G>A (p.Arg391Gln) AND Myocardial infarction, decreased susceptibility to
- ClinVar Allele ID
- 27119
- ClinVar RefSeq Alternation Syntax
- NR_051961.2:n.1256G>A
- ClinVar RefSeq Alternation Syntax
- NM_000131.4:c.1238G>A
- ClinVar RefSeq Alternation Syntax
- NM_019616.4:c.1172G>A
- ClinVar RefSeq Alternation Syntax
- NM_001267554.2:c.986G>A
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2000-09-14
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012861
- ClinVar Disease
- Myocardial infarction, decreased susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 10984565
Drugs