RGD:15177517 Rat Genome Database

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Variant: RGD:15177517 -  Homo sapiens

RGD ID: 15177517
RS ID: rs200437703
ClinVar ID: CV731288
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124904724  LOC130064606  PLAUR  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 44,174,212
GRCh38 19 43,670,060
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005377.3:c.55+6G>T
NM_001301037.2:c.55+6G>T
NM_002659.4:c.55+6G>T
NG_032898.1:g.5287G>T
More...
08/09/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LOC124904724
Accession:XR_007067264
Location:EXON;NON-CODING

Gene Symbol:PLAUR
Accession:XM_047438925
Location:INTRON

Gene Symbol:PLAUR
Accession:NM_001005377
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438929
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438931
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438934
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438928
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_017026872
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438933
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438936
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438935
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438932
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438937
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438927
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438930
Location:INTRON

Gene Symbol:PLAUR
Accession:NM_001005376
Location:INTRON

Gene Symbol:PLAUR
Accession:NM_001301037
Location:INTRON

Gene Symbol:PLAUR
Accession:NM_002659
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438926
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000884842 CLINVAR
dbSNP (RS) rs200437703 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC130064606 CLINVAR
  PLAUR CLINVAR
OMIM 173391 CLINVAR