RGD:14708559 Rat Genome Database

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Variant: RGD:14708559 -  Homo sapiens

RGD ID: 14708559
RS ID: rs1572036396
ClinVar ID: CV650615
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1S  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 201,031,644
GRCh38 1 201,062,516
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.201062516T>G
NM_000069.3:c.2854-2A>C
NG_009816.2:g.55051A>C
NC_000001.10:g.201031644T>G
More... 		12/14/2018 splice acceptor variant likely pathogenic HypoPP; Malignant hyperpyrexia susceptibility type 5; Malignant hyperthermia susceptibility type 5; MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNA1S
Accession:NM_000069
Location:INTRON

Gene Symbol:CACNA1S
Accession:XM_005245478
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:26247046   PMID:28012042   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000809846 CLINVAR
dbSNP (RS) rs1572036396 CLINVAR
MedGen C3714580 CLINVAR
NCBI Gene CACNA1S CLINVAR
OMIM 114208 CLINVAR
  170400 CLINVAR
  601887 CLINVAR