RGD:15186026 Rat Genome Database

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Variant: RGD:15186026 -  Homo sapiens

RGD ID: 15186026
RS ID: rs185294741
ClinVar ID: CV777016
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F5  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 169,489,751
GRCh38 1 169,520,513
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000130.5:c.6193+7T>A
NG_011806.1:g.71019T>A
NC_000001.11:g.169520513A>T
NC_000001.10:g.169489751A>T
More...
12/31/2019 intron variant benign|likely benign|uncertain significance Hepatic vein obstruction; Hereditary factor V deficiency disease; LABILE FACTOR DEFICIENCY; OWREN PARAHEMOPHILIA; PARAHEMOPHILIA; Prothrombin-Related Thrombophilia (Factor II); Reduced coagulation factor V activity; THROMBOPHILIA DUE TO FACTOR 2 DEFECT; Thrombosis susceptibility
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:F5
Accession:NM_000130
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000953158 CLINVAR
  RCV001101582 CLINVAR
  RCV001101583 CLINVAR
  RCV003762919 CLINVAR
dbSNP (RS) rs185294741 CLINVAR
MedGen C0015499 CLINVAR
  C0856761 CLINVAR
  C3160733 CLINVAR
  C4317320 CLINVAR
NCBI Gene F5 CLINVAR
OMIM 188050 CLINVAR
  227400 CLINVAR
  600880 CLINVAR
  612309 CLINVAR
SNOMED CT 4320005 CLINVAR
  82385007 CLINVAR
  88776002 CLINVAR