RGD:11592896 Rat Genome Database

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Variant: RGD:11592896 -  Homo sapiens

RGD ID: 11592896
RS ID: rs11920643
ClinVar ID: CV295216
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITPR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 4,703,939
GRCh38 3 4,662,255
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016144.1:g.173908G>A
NC_000003.12:g.4662255G>A
NC_000003.11:g.4703939G>A
NM_002222.5:c.1367+13G>A
More... 		11/26/2020 intron variant benign|likely benign none provided; Spinocerebellar Ataxia, Dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ITPR1
Accession:NM_001168272
Location:INTRON

Gene Symbol:ITPR1
Accession:NM_002222
Location:INTRON

Gene Symbol:ITPR1
Accession:NM_001099952
Location:INTRON

Gene Symbol:ITPR1
Accession:NM_001378452
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000343295 CLINVAR
  RCV001512793 CLINVAR
dbSNP (RS) rs11920643 CLINVAR
MedGen C3661900 CLINVAR
  C4087347 CLINVAR
NCBI Gene ITPR1 CLINVAR
OMIM 147265 CLINVAR