RGD:13623630 Rat Genome Database

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Variant: RGD:13623630 -  Homo sapiens

RGD ID: 13623630
RS ID: rs148989517
ClinVar ID: CV515444
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1S  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 201,010,719
GRCh38 1 201,041,591
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.201041591T>C
NC_000001.10:g.201010719T>C
NM_000069.3:c.5049-2A>G
NG_009816.2:g.75976A>G
More... 		10/08/2020 splice acceptor variant pathogenic|likely pathogenic|likely benign|uncertain significance 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:NM_000069
Location:INTRON

Gene Symbol:CACNA1S
Accession:XM_005245478
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000651268 CLINVAR
  RCV002248848 CLINVAR
  RCV002260656 CLINVAR
  RCV002469236 CLINVAR
dbSNP (RS) rs148989517 CLINVAR
MedGen C3661900 CLINVAR
  C3714580 CLINVAR
  CN169374 CLINVAR
NCBI Gene CACNA1S CLINVAR
OMIM 114208 CLINVAR
  170400 CLINVAR
  601887 CLINVAR