RGD:28899802 Rat Genome Database

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Variant: RGD:28899802 -  Homo sapiens

RGD ID: 28899802
RS ID: rs1026194457
ClinVar ID: CV866251
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C10orf55  PLAU  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 75,676,632
GRCh38 10 73,916,874
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_593t1:c.*309T>C
NM_001145031.3:c.*309T>C
NM_001319191.2:c.*309T>C
NM_002658.6:c.*309T>C
More...
01/13/2018 3 prime utr variant uncertain significance BLEEDING DISORDER, PLATELET-TYPE, 5; Factor V Quebec
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLAU
Accession:NM_001145031
Location:3UTRS;EXON

Gene Symbol:PLAU
Accession:NM_002658
Location:3UTRS;EXON

Gene Symbol:PLAU
Accession:XM_011539866
Location:3UTRS;EXON

Gene Symbol:PLAU
Accession:NM_001319191
Location:3UTRS;EXON

Gene Symbol:PLAU
Accession:XM_047425353
Location:3UTRS;EXON

Gene Symbol:C10orf55
Accession:NR_160938
Location:INTRON;NON-CODING

Gene Symbol:C10orf55
Accession:NR_160937
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001103523 CLINVAR
dbSNP (RS) rs1026194457 CLINVAR
MedGen C1866423 CLINVAR
NCBI Gene C10orf55 CLINVAR
  PLAU CLINVAR
OMIM 191840 CLINVAR
  601709 CLINVAR