RGD:11590036 Rat Genome Database

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Variant: RGD:11590036 -  Homo sapiens

RGD ID: 11590036
RS ID: rs12406863
ClinVar ID: CV281694
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RYR2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 237,996,661
GRCh38 1 237,833,361
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.237833361C>G
NC_000001.10:g.237996661C>G
LRG_402t1:c.*714C>G
LRG_402:g.796178C>G
More...
01/13/2018 3 prime utr variant benign|likely benign Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RYR2
Accession:NM_001035
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_006711802
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_006711804
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_006711806
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_006711807
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_006711808
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_006711805
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_006711803
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_006711810
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_017002028
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_047427333
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_047427336
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_047427329
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_047427337
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_047427341
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XM_047427317
Location:3UTRS;EXON

Gene Symbol:RYR2
Accession:XR_002957299
Location:INTRON;NON-CODING

Gene Symbol:RYR2
Accession:XR_007062490
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000315223 CLINVAR
  RCV000362951 CLINVAR
dbSNP (RS) rs12406863 CLINVAR
MedGen C1631597 CLINVAR
  C1832931 CLINVAR
NCBI Gene RYR2 CLINVAR
OMIM 180902 CLINVAR
  604772 CLINVAR