RGD:28869356 Rat Genome Database

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Variant: RGD:28869356 -  Homo sapiens

RGD ID: 28869356
RS ID: rs551400163
ClinVar ID: CV897064
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINE1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 100,780,998
GRCh38 7 101,137,717
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_597:g.15620C>T
LRG_597t1:c.*275C>T
NM_000602.5:c.*275C>T
NG_013213.1:g.15620C>T
More... 		01/13/2018 3 prime utr variant uncertain significance HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERPINE1
Accession:NM_001386458
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386457
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_000602
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386466
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386463
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386465
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386456
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386464
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386462
Location:3UTRS;EXON

Gene Symbol:SERPINE1
Accession:NM_001386461
Location:INTRON

Gene Symbol:SERPINE1
Accession:NM_001386459
Location:INTRON

Gene Symbol:SERPINE1
Accession:NM_001386460
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001163054 CLINVAR
dbSNP (RS) rs551400163 CLINVAR
MedGen C2750067 CLINVAR
NCBI Gene SERPINE1 CLINVAR
OMIM 173360 CLINVAR
  613329 CLINVAR