RGD:10054784 Rat Genome Database

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Variant: RGD:10054784 -  Homo sapiens

RGD ID: 10054784
RS ID: rs6702590
ClinVar ID: CV196497
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1S  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 201,020,105
GRCh38 1 201,050,977
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.201050977A>G
NC_000001.10:g.201020105A>G
NM_000069.3:c.4113+7T>C
NG_009816.2:g.66590T>C
More... 		07/21/2017 intron variant benign AllHighlyPenetrant; HypoPP; Malignant hyperpyrexia susceptibility type 5; Malignant hyperthermia susceptibility type 5; Malignant hyperthermia, susceptibility to, 5; none provided
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:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000181033 CLINVAR
  RCV000390372 CLINVAR
  RCV000588745 CLINVAR
  RCV001516746 CLINVAR
dbSNP (RS) rs6702590 CLINVAR
MedGen C3661900 CLINVAR
  C3714580 CLINVAR
  CN169374 CLINVAR
NCBI Gene CACNA1S CLINVAR
OMIM 114208 CLINVAR
  170400 CLINVAR
  601887 CLINVAR