RGD:11593415 Rat Genome Database

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Variant: RGD:11593415 -  Homo sapiens

RGD ID: 11593415
RS ID: rs9875113
ClinVar ID: CV295454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124906209  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 4,889,294
GRCh38 3 4,847,610
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.12:g.4847610A>G
NC_000003.11:g.4889294A>G
NM_002222.5:c.*1385A>G
NG_016144.1:g.359263A>G
More... 		01/13/2018 3 prime utr variant benign|likely benign Spinocerebellar Ataxia, Dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LOC124906209
Accession:XR_007095796
Location:INTRON;NON-CODING

Gene Symbol:LOC124906209
Accession:XR_007095790
Location:INTRON;NON-CODING

Gene Symbol:LOC124906209
Accession:XR_007095791
Location:INTRON;NON-CODING

Gene Symbol:LOC124906209
Accession:XR_007095795
Location:INTRON;NON-CODING

Gene Symbol:LOC124906209
Accession:XR_007095794
Location:INTRON;NON-CODING

Gene Symbol:LOC124906209
Accession:XR_007095792
Location:INTRON;NON-CODING

Gene Symbol:LOC124906209
Accession:XR_007095793
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000348379 CLINVAR
dbSNP (RS) rs9875113 CLINVAR
MedGen C4087347 CLINVAR
NCBI Gene ITPR1 CLINVAR
OMIM 147265 CLINVAR