RGD:28897073 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:28897073 -  Homo sapiens

RGD ID: 28897073
RS ID: rs550454517
ClinVar ID: CV862700
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 169,481,514
GRCh38 1 169,512,276
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.169512276C>T
NC_000001.10:g.169481514C>T
NM_000130.4:c.*2037G>A
LRG_553t1:c.*2037G>A
More...
01/13/2018 3 prime utr variant likely benign|uncertain significance Hepatic vein obstruction; 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001102460 CLINVAR
  RCV001102461 CLINVAR
  RCV001102462 CLINVAR
dbSNP (RS) rs550454517 CLINVAR
MedGen C0856761 CLINVAR
  C3160733 CLINVAR
  C4317320 CLINVAR
NCBI Gene F5 CLINVAR
OMIM 188050 CLINVAR
  600880 CLINVAR
  612309 CLINVAR
SNOMED CT 4320005 CLINVAR
  82385007 CLINVAR