RGD:28884168 Rat Genome Database

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Variant: RGD:28884168 -  Homo sapiens

RGD ID: 28884168
RS ID: rs1001647624
ClinVar ID: CV862719
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 169,483,476
GRCh38 1 169,514,238
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_553t1:c.*75G>A
NC_000001.10:g.169483476C>T
NM_000130.5:c.*75G>A
LRG_553:g.77294G>A
More... 		01/12/2018 3 prime utr variant uncertain significance APC RESISTANCE; Hepatic vein obstruction; Hereditary Resistance to Activated Protein C; PCCF DEFICIENCY; PROC COFACTOR DEFICIENCY; Prothrombin-Related Thrombophilia (Factor II); Reduced coagulation factor V activity; THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR; THROMBOPHILIA DUE TO FACTOR 2 DEFECT; THROMBOPHILIA V; 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 RCV001097721 CLINVAR
  RCV001097722 CLINVAR
  RCV001099508 CLINVAR
  RCV001099509 CLINVAR
dbSNP (RS) rs1001647624 CLINVAR
MedGen C0856761 CLINVAR
  C1861171 CLINVAR
  C3160733 CLINVAR
  C4317320 CLINVAR
NCBI Gene F5 CLINVAR
OMIM 188050 CLINVAR
  188055 CLINVAR
  600880 CLINVAR
  612309 CLINVAR
SNOMED CT 4320005 CLINVAR
  82385007 CLINVAR