RGD:8688949 Rat Genome Database

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Variant: RGD:8688949 -  Homo sapiens

RGD ID: 8688949
RS ID: rs4632259
ClinVar ID: CV136736
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RYR1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 38,924,362
GRCh38 19 38,433,722
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_008866.1:g.5023T>C
NC_000019.10:g.38433722T>C
NC_000019.9:g.38924362T>C
p.(=)
More... 		06/28/2018 5 prime utr variant benign|not provided mmd is thought to be rare. actual prevalence figures are unknown.|the precise incidence and prevalence of ccd, considered to be the most frequently occurring congenital myopathy, are unknown. Anesthesia related hyperthermia; Central core disease; Central core disease of muscle; CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE; Fulminating hyperpyrexia; Malignant hyperpyrexia; Malignant hyperthermia suceptibility 1; Minicore myopathy with external ophthalmoplegia; MULTICORE MYOPATHY; Multiminicore disease with external ophthalmoplegia; Muscle core disease; Muscular central core disease; Myopathy, central fibrillar; none provided; Pharmacogenic myopathy; Shy-Magee syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RYR1
Accession:XM_006723317
Location:5UTRS;EXON

Gene Symbol:RYR1
Accession:XM_011527205
Location:5UTRS;EXON

Gene Symbol:RYR1
Accession:NM_000540
Location:5UTRS;EXON

Gene Symbol:RYR1
Accession:NM_001042723
Location:5UTRS;EXON

Gene Symbol:RYR1
Accession:XM_047439202
Location:5UTRS;EXON

Gene Symbol:RYR1
Accession:XM_006723319
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:16917943  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000119398 CLINVAR
  RCV000260389 CLINVAR
  RCV000262019 CLINVAR
  RCV000315663 CLINVAR
  RCV000375413 CLINVAR
dbSNP (RS) rs4632259 CLINVAR
MedGen C0751951 CLINVAR
  C1850674 CLINVAR
  C2674259 CLINVAR
  C2930980 CLINVAR
  C3661900 CLINVAR
NCBI Gene RYR1 CLINVAR
OMIM 117000 CLINVAR
  145600 CLINVAR
  180901 CLINVAR
  255320 CLINVAR
SNOMED CT 43152001 CLINVAR