RGD:11596645 Rat Genome Database

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Variant: RGD:11596645 -  Homo sapiens

RGD ID: 11596645
RS ID: rs368532017
ClinVar ID: CV291824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITPR1  LOC124906209  LOC126806590  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 4,856,096
GRCh38 3 4,814,412
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.326065C>T
NC_000003.12:g.4814412C>T
NC_000003.11:g.4856096C>T
NM_002222.5:c.7373-11C>T
More... 		09/15/2022 intron variant likely benign|uncertain significance none provided; Spinocerebellar Ataxia, Dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LOC124906209
Accession:XR_007095794
Location:EXON;NON-CODING

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

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

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

Gene Symbol:LOC124906209
Accession:XR_007095796
Location:EXON;NON-CODING

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

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

Gene Symbol:ITPR1
Accession:NM_001168272
Location:INTRON

Gene Symbol:ITPR1
Accession:NM_001378452
Location:INTRON

Gene Symbol:ITPR1
Accession:NM_002222
Location:INTRON

Gene Symbol:ITPR1
Accession:NM_001099952
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000384727 CLINVAR
  RCV002520141 CLINVAR
dbSNP (RS) rs368532017 CLINVAR
MedGen C3661900 CLINVAR
  C4087347 CLINVAR
NCBI Gene ITPR1 CLINVAR
  LOC126806590 CLINVAR
OMIM 147265 CLINVAR