RGD:11663759 Rat Genome Database

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Variant: RGD:11663759 -  Homo sapiens

RGD ID: 11663759
RS ID: rs886060661
ClinVar ID: CV304102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGA2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 52,374,590
GRCh38 5 53,078,760
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.53078760A>T
NC_000005.9:g.52374590A>T
NM_002203.4:c.2826-12A>T
NG_008330.2:g.94435A>T
More... 		06/14/2016 intron variant uncertain significance 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:INTRON

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000398950 CLINVAR
dbSNP (RS) rs886060661 CLINVAR
MedGen C3280114 CLINVAR
NCBI Gene ITGA2 CLINVAR
OMIM 192974 CLINVAR
  614200 CLINVAR