RGD:11655703 Rat Genome Database

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Variant: RGD:11655703 -  Homo sapiens

RGD ID: 11655703
RS ID: rs886045795
ClinVar ID: CV278356
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1S  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 201,017,707
GRCh38 1 201,048,579
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000069.3:c.4441+3G>A
NG_009816.2:g.68988G>A
NM_000069.2:c.4441+3G>A
NC_000001.11:g.201048579C>T
More...
04/11/2023 intron variant 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; Thyrotoxic periodic paralysis, susceptibility to, 1
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:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000327830 CLINVAR
  RCV000651214 CLINVAR
  RCV002480069 CLINVAR
  RCV003445851 CLINVAR
  RCV003445852 CLINVAR
  RCV003445853 CLINVAR
dbSNP (RS) rs886045795 CLINVAR
MedGen C1866077 CLINVAR
  C2749982 CLINVAR
  C3714580 CLINVAR
  C5830283 CLINVAR
NCBI Gene CACNA1S CLINVAR
OMIM 114208 CLINVAR
  170400 CLINVAR
  188580 CLINVAR
  601887 CLINVAR
  620246 CLINVAR