RGD:8566739 Rat Genome Database

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Variant: RGD:8566739 -  Homo sapiens

RGD ID: 8566739
RS ID: rs80338782
ClinVar ID: CV33887
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1S  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 201,029,944
GRCh38 1 201,060,816
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000001.11:g.201060816G>A
NC_000001.10:g.201029944G>A
NP_000060.2:p.Arg1086Cys
NM_000069.3:c.3256C>T
More... 		06/05/2020 missense|missense variant pathogenic|uncertain significance all ages|childhood|variable 1-9 / 100 000 AllHighlyPenetrant; DHPR CONGENITAL MYOPATHY; DIHYDROPYRIDINE RECEPTOR CONGENITAL MYOPATHY; HypoPP; Malignant hyperpyrexia susceptibility type 5; Malignant hyperthermia susceptibility type 5; MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; Myopathy, congenital, due to dihydropyridine receptor defect; none provided; Thyrotoxic periodic paralysis, susceptibility to, 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNA1S
Accession:XM_005245478
Location:INTRON

Gene Symbol:CACNA1S
Accession:NM_000069
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9199552   PMID:10590402   PMID:11260227   PMID:12411788   PMID:20431982   PMID:25637381   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000148445 CLINVAR
  RCV000540523 CLINVAR
  RCV000761690 CLINVAR
  RCV002504813 CLINVAR
  RCV003323363 CLINVAR
  RCV003447478 CLINVAR
  RCV003450647 CLINVAR
  RCV003450648 CLINVAR
  RCV003458338 CLINVAR
dbSNP (RS) rs80338782 CLINVAR
MedGen C0238358 CLINVAR
  C1866077 CLINVAR
  C2749982 CLINVAR
  C3661900 CLINVAR
  C3714580 CLINVAR
  C5830283 CLINVAR
  CN169374 CLINVAR
NCBI Gene CACNA1S CLINVAR
OMIM 114208 CLINVAR
  170400 CLINVAR
  188580 CLINVAR
  601887 CLINVAR
  620246 CLINVAR