RGD:150455090 Rat Genome Database

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Variant: RGD:150455090 -  Homo sapiens

RGD ID: 150455090
RS ID: rs820391
ClinVar ID: CV1277127
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALK1  ITGB4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 73,748,108
GRCh38 17 75,752,027
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.75752027C>T
NC_000017.10:g.73748108C>T
NM_001381985.1:c.*23-290G>A
NM_000213.5:c.3794-147C>T
More... 		07/09/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GALK1
Accession:NM_001381985
Location:3UTRS;INTRON

Gene Symbol:ITGB4
Accession:XM_006721867
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_011524751
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_005257309
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_006721868
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435929
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_000213
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_011524752
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435928
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_006721870
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435927
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_001321123
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_001005619
Location:INTRON

Gene Symbol:GALK1
Accession:NM_000154
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_006721866
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_005257311
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435926
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_001005731
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001708919 CLINVAR
dbSNP (RS) rs820391 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GALK1 CLINVAR
  ITGB4 CLINVAR
OMIM 147557 CLINVAR
  604313 CLINVAR