RGD:34899535 Rat Genome Database

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Variant: RGD:34899535 -  Homo sapiens

RGD ID: 34899535
RS ID: rs1663578215
ClinVar ID: CV915305
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RYR2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 237,656,242
GRCh38 1 237,492,942
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_402t1:c.1828-12T>G
NM_001035.3:c.1828-12T>G
LRG_402:g.455759T>G
NG_008799.3:g.455759T>G
More... 		07/27/2019 intron variant uncertain significance Cardiomyopathies
Disease Annotations     Click to see Annotation Detail View
cardiomyopathy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:RYR2
Accession:XM_006711803
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711810
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711808
Location:INTRON

Gene Symbol:RYR2
Accession:XM_047427337
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711806
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711805
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711802
Location:INTRON

Gene Symbol:RYR2
Accession:XM_047427317
Location:INTRON

Gene Symbol:RYR2
Accession:XM_017002028
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711807
Location:INTRON

Gene Symbol:RYR2
Accession:XM_047427333
Location:INTRON

Gene Symbol:RYR2
Accession:XM_047427336
Location:INTRON

Gene Symbol:RYR2
Accession:NM_001035
Location:INTRON

Gene Symbol:RYR2
Accession:XM_006711804
Location:INTRON

Gene Symbol:RYR2
Accession:XM_047427341
Location:INTRON

Gene Symbol:RYR2
Accession:XM_047427329
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  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001188535 CLINVAR
dbSNP (RS) rs1663578215 CLINVAR
MedGen C0878544 CLINVAR
NCBI Gene RYR2 CLINVAR
OMIM 180902 CLINVAR
SNOMED CT 85898001 CLINVAR