RGD:13486243 Rat Genome Database

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Variant: RGD:13486243 -  Homo sapiens

RGD ID: 13486243
RS ID: rs776697656
ClinVar ID: CV446115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RYR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 39,003,124
GRCh38 19 38,512,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_766t1:c.9472+1G>A
NG_008866.1:g.83785G>A
LRG_766:g.83785G>A
NM_000540.3:c.9472+1G>A
More... 		06/25/2022 splice donor variant likely pathogenic Anesthesia related hyperthermia; Central core disease; Central core disease of muscle; Congenital Fiber-Type Disproportion; Congenital fiber-type disproportion myopathy; Congenital multicore myopathy with external ophthalmoplegia; CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE; Congenital myopathy with fiber type disproportion; Fulminating hyperpyrexia; King Denborough syndrome; King syndrome; Malignant hyperpyrexia; Malignant hyperthermia suceptibility 1; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy with external ophthalmoplegia; MULTICORE MYOPATHY; Multicore myopathy with external ophthalmoplegia; 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:NM_001042723
Location:INTRON

Gene Symbol:RYR1
Accession:XM_011527205
Location:INTRON

Gene Symbol:RYR1
Accession:XM_047439202
Location:INTRON

Gene Symbol:RYR1
Accession:XM_006723319
Location:INTRON

Gene Symbol:RYR1
Accession:NM_000540
Location:INTRON

Gene Symbol:RYR1
Accession:XM_006723317
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:23919265   PMID:25741868   PMID:25960145   PMID:28492532   PMID:28818389   PMID:30611313   PMID:34625927  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000522844 CLINVAR
  RCV001266974 CLINVAR
  RCV001858000 CLINVAR
  RCV002506276 CLINVAR
dbSNP (RS) rs776697656 CLINVAR
MedGen C0751951 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
  CN239331 CLINVAR
NCBI Gene RYR1 CLINVAR
OMIM 117000 CLINVAR
  145600 CLINVAR
  180901 CLINVAR
  255310 CLINVAR
  255320 CLINVAR
  619542 CLINVAR
SNOMED CT 43152001 CLINVAR