RGD:11626864 Rat Genome Database

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Variant: RGD:11626864 -  Homo sapiens

RGD ID: 11626864
RS ID: rs760987340
ClinVar ID: CV348682
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129391106  RYR1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 38,945,863
GRCh38 19 38,455,223
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_766t1:c.1441-12T>C
LRG_766:g.26524T>C
NG_008866.1:g.26524T>C
NC_000019.10:g.38455223T>C
More... 		03/12/2022 intron variant likely benign|uncertain significance 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; Pharmacogenic myopathy; Shy-Magee syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RYR1
Accession:NM_000540
Location:INTRON

Gene Symbol:RYR1
Accession:XM_006723317
Location:INTRON

Gene Symbol:RYR1
Accession:NM_001042723
Location:INTRON

Gene Symbol:RYR1
Accession:XM_011527205
Location:INTRON

Gene Symbol:RYR1
Accession:XM_006723319
Location:INTRON

Gene Symbol:RYR1
Accession:XM_047439202
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000271566 CLINVAR
  RCV000306535 CLINVAR
  RCV000363816 CLINVAR
  RCV000391071 CLINVAR
  RCV002521217 CLINVAR
dbSNP (RS) rs760987340 CLINVAR
MedGen C0751951 CLINVAR
  C1850674 CLINVAR
  C2674259 CLINVAR
  C2930980 CLINVAR
  CN239331 CLINVAR
NCBI Gene LOC129391106 CLINVAR
  RYR1 CLINVAR
OMIM 117000 CLINVAR
  145600 CLINVAR
  180901 CLINVAR
  255320 CLINVAR
SNOMED CT 43152001 CLINVAR