RGD:28910559 Rat Genome Database

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Variant: RGD:28910559 -  Homo sapiens

RGD ID: 28910559
RS ID: rs1356412166
ClinVar ID: CV900287
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINE1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 100,780,271
GRCh38 7 101,136,990
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_597t1:c.1088-11T>C
NM_000602.5:c.1088-11T>C
LRG_597:g.14893T>C
NG_013213.1:g.14893T>C
More...
01/13/2018 intron 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:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQMSPALTCLVLGLALVFGEGSAVHHPPSYVAHLASDFGVRVFQQVAQASKDRNVVFSPYGVASVLAMLQLTTGGETQQQ
IQAAMGFKIDDKGMAPALRHLYKELMGPWNKDEISTTDAIFVQRDLKLVQGFMPHFFRLFRSTVKQVDFSEVERARFIIN
DWVKTHTKGMISNLLGKGAVDQLTRLVLVNALYFNGQWKTPFPDSSTHRRLFHKSDGSTVSVPMMAQTNKFNYTEFTTPD
GHYYDILELPYHGDTLSMFIAAPYEKEVPLSALTNILSAQLISHWKGNMTRLPRLLVLPKFSLETEVDLRKPLENLGMTD
MFRQFQADFTSLSDQEPLHVAQALQKVKIEVNESGTVASSSTDIVPSLAAVIVSARMAPEEIIMDRPFLFVVRHNPTGTV
LFMGQVMEP*

Gene Symbol:SERPINE1
Accession:NM_000602
Location:INTRON

Gene Symbol:SERPINE1
Accession:NM_001386466
Location:INTRON

Gene Symbol:SERPINE1
Accession:NM_001386465
Location:INTRON

Gene Symbol:SERPINE1
Accession:NM_001386464
Location:INTRON

Gene Symbol:SERPINE1
Accession:NM_001386459
Location:INTRON

Gene Symbol:SERPINE1
Accession:NM_001386460
Location:INTRON

Gene Symbol:SERPINE1
Accession:NM_001386461
Location:INTRON

Gene Symbol:SERPINE1
Accession:NM_001386457
Location:INTRON

Gene Symbol:SERPINE1
Accession:NM_001386463
Location:INTRON

Gene Symbol:SERPINE1
Accession:NM_001386462
Location:INTRON

Gene Symbol:SERPINE1
Accession:NM_001386456
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001161525 CLINVAR
dbSNP (RS) rs1356412166 CLINVAR
MedGen C2750067 CLINVAR
NCBI Gene SERPINE1 CLINVAR
OMIM 173360 CLINVAR
  613329 CLINVAR