RGD:127287553 Rat Genome Database

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Variant: RGD:127287553 -  Homo sapiens

RGD ID: 127287553
RS ID: rs375250339
ClinVar ID: CV1109888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1S  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 201,047,240
GRCh38 1 201,078,112
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.1394-8C>A
NG_009816.2:g.39455C>A
NC_000001.10:g.201047240G>T
NC_000001.11:g.201078112G>T
 04/03/2020 intron variant likely benign 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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001450143 CLINVAR
  RCV003517330 CLINVAR
dbSNP (RS) rs375250339 CLINVAR
MedGen C1866077 CLINVAR
  C3714580 CLINVAR
NCBI Gene CACNA1S CLINVAR
OMIM 114208 CLINVAR
  170400 CLINVAR
  601887 CLINVAR