RGD:11665959 Rat Genome Database

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Variant: RGD:11665959 -  Homo sapiens

RGD ID: 11665959
RS ID: rs7737412
ClinVar ID: CV297781
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 52,389,593
GRCh38 5 53,093,763
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
NG_008435.2:g.21006C>T
NC_000005.10:g.53093763G>A
NC_000005.9:g.52389593G>A
NM_002203.4:c.*3164G>A
More...
06/14/2016 3 prime utr variant benign|likely benign all ages <1 / 1 000 000 COLLAGEN PLATELET RECEPTOR DEFICIENCY; Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase; GLYCOPROTEIN Ia DEFICIENCY; GP Ia DEFICIENCY; Molybdenum cofactor deficiency; Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000305044 CLINVAR
  RCV000369301 CLINVAR
dbSNP (RS) rs7737412 CLINVAR
MedGen C0268119 CLINVAR
  C3280114 CLINVAR
NCBI Gene ITGA2 CLINVAR
  MOCS2 CLINVAR
OMIM 192974 CLINVAR
  603708 CLINVAR
  614200 CLINVAR
SNOMED CT 29692004 CLINVAR