RGD:11611944 Rat Genome Database

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Variant: RGD:11611944 -  Homo sapiens

RGD ID: 11611944
RS ID: rs758980432
ClinVar ID: CV304412
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGA2  LOC124900974  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 52,322,708
GRCh38 5 53,026,878
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.53026878T>C
NC_000005.9:g.52322708T>C
NM_002203.4:c.185+10T>C
NG_008330.2:g.42553T>C
More... 		04/25/2019 intron variant likely benign|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_073103
Location:INTRON;NON-CODING

Gene Symbol:LOC124900974
Accession:XR_007058767
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_073107
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000401294 CLINVAR
  RCV003950254 CLINVAR
dbSNP (RS) rs758980432 CLINVAR
MedGen C3280114 CLINVAR
NCBI Gene ITGA2 CLINVAR
OMIM 192974 CLINVAR
  614200 CLINVAR