RGD:12841760 Rat Genome Database

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Variant: RGD:12841760 -  Homo sapiens

RGD ID: 12841760
RS ID: rs372569768
ClinVar ID: CV364887
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RYR2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 237,895,331
GRCh38 1 237,732,031
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.237732031T>A
NC_000001.10:g.237895331T>A
LRG_402t1:c.10936-15T>A
LRG_402:g.694848T>A
More... 		12/01/2018 intron variant likely benign AllHighlyPenetrant; Cardiomyopathies; 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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:RYR2
Accession:XM_006711808
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711807
Location:INTRON

Gene Symbol:RYR2
Accession:XM_047427333
Location:INTRON

Gene Symbol:RYR2
Accession:XM_047427329
Location:INTRON

Gene Symbol:RYR2
Accession:XM_047427336
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711803
Location:INTRON

Gene Symbol:RYR2
Accession:XM_017002028
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711810
Location:INTRON

Gene Symbol:RYR2
Accession:XM_047427317
Location:INTRON

Gene Symbol:RYR2
Accession:NM_001035
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711806
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711805
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711804
Location:INTRON

Gene Symbol:RYR2
Accession:XM_047427341
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711802
Location:INTRON

Gene Symbol:RYR2
Accession:XM_047427337
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000433149 CLINVAR
  RCV001180556 CLINVAR
  RCV002521791 CLINVAR
dbSNP (RS) rs372569768 CLINVAR
MedGen C0878544 CLINVAR
  C1631597 CLINVAR
  CN169374 CLINVAR
NCBI Gene RYR2 CLINVAR
OMIM 180902 CLINVAR
  604772 CLINVAR
SNOMED CT 85898001 CLINVAR