RGD:11578135 Rat Genome Database

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Variant: RGD:11578135 -  Homo sapiens

RGD ID: 11578135
RS ID: rs376279583
ClinVar ID: CV279554
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1S  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 201,038,740
GRCh38 1 201,069,612
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.201069612G>A
NC_000001.10:g.201038740G>A
NG_009816.2:g.47955C>T
NM_000069.2:c.2361-11C>T
More... 		04/11/2023 intron variant benign|likely benign|uncertain significance 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
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000274878 CLINVAR
  RCV000419035 CLINVAR
  RCV002059418 CLINVAR
  RCV003445860 CLINVAR
  RCV003445861 CLINVAR
  RCV003445862 CLINVAR
  RCV003949978 CLINVAR
dbSNP (RS) rs376279583 CLINVAR
MedGen C1866077 CLINVAR
  C2749982 CLINVAR
  C3661900 CLINVAR
  C3714580 CLINVAR
  C5830283 CLINVAR
NCBI Gene CACNA1S CLINVAR
OMIM 114208 CLINVAR
  170400 CLINVAR
  188580 CLINVAR
  601887 CLINVAR
  620246 CLINVAR