RGD:13605895 Rat Genome Database

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Variant: RGD:13605895 -  Homo sapiens

RGD ID: 13605895
RS ID: rs111370716
ClinVar ID: CV528693
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RYR3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 34,048,502
GRCh38 15 33,756,301
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.33756301C>T
NC_000015.9:g.34048502C>T
NG_047076.1:g.450519C>T
NM_001243996.4:c.8516-5C>T
More... 		01/04/2018 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RYR3
Accession:XM_047432931
Location:INTRON

Gene Symbol:RYR3
Accession:XM_017022476
Location:INTRON

Gene Symbol:RYR3
Accession:XM_047432932
Location:INTRON

Gene Symbol:RYR3
Accession:XM_017022475
Location:INTRON

Gene Symbol:RYR3
Accession:XM_011521880
Location:INTRON

Gene Symbol:RYR3
Accession:XM_017022474
Location:INTRON

Gene Symbol:RYR3
Accession:XM_017022473
Location:INTRON

Gene Symbol:RYR3
Accession:NM_001036
Location:INTRON

Gene Symbol:RYR3
Accession:XM_017022471
Location:INTRON

Gene Symbol:RYR3
Accession:XM_047432933
Location:INTRON

Gene Symbol:RYR3
Accession:XM_017022470
Location:INTRON

Gene Symbol:RYR3
Accession:XM_024450015
Location:INTRON

Gene Symbol:RYR3
Accession:XM_017022468
Location:INTRON

Gene Symbol:RYR3
Accession:XM_024450016
Location:INTRON

Gene Symbol:RYR3
Accession:XM_017022472
Location:INTRON

Gene Symbol:RYR3
Accession:XM_017022469
Location:INTRON

Gene Symbol:RYR3
Accession:XM_017022477
Location:INTRON

Gene Symbol:RYR3
Accession:NM_001243996
Location:INTRON

Gene Symbol:RYR3
Accession:XR_001751371
Location:INTRON;NON-CODING

Gene Symbol:RYR3
Accession:XR_001751370
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000637277 CLINVAR
dbSNP (RS) rs111370716 CLINVAR
MedGen C0543888 CLINVAR
NCBI Gene RYR3 CLINVAR
OMIM 180903 CLINVAR