RGD:11594716 Rat Genome Database

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Variant: RGD:11594716 -  Homo sapiens

RGD ID: 11594716
RS ID: rs13173706
ClinVar ID: CV304115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 52,386,458
GRCh38 5 53,090,628
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000005.10:g.53090628G>A
NC_000005.9:g.52386458G>A
NG_008330.2:g.106303G>A
NM_002203.3:c.*29G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign all ages <1 / 1 000 000 COLLAGEN PLATELET RECEPTOR DEFICIENCY; GLYCOPROTEIN Ia DEFICIENCY; GP Ia DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ITGA2
Accession:NM_002203
Location:3UTRS;EXON

Gene Symbol:ITGA2
Accession:NR_073104
Location:EXON;NON-CODING

Gene Symbol:ITGA2
Accession:NR_073106
Location:EXON;NON-CODING

Gene Symbol:ITGA2
Accession:NR_073107
Location:EXON;NON-CODING

Gene Symbol:ITGA2
Accession:NR_073103
Location:EXON;NON-CODING

Gene Symbol:ITGA2
Accession:NR_073105
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000362413 CLINVAR
dbSNP (RS) rs13173706 CLINVAR
MedGen C3280114 CLINVAR
NCBI Gene ITGA2 CLINVAR
OMIM 192974 CLINVAR
  614200 CLINVAR