RGD:150408591 Rat Genome Database

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Variant: RGD:150408591 -  Homo sapiens

RGD ID: 150408591
RS ID: rs4926263
ClinVar ID: CV1182705
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 13,414,796
GRCh38 19 13,303,982
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.9:g.13414796G>A
NM_001127222.1:c.1987-98C>T
LRG_7:g.207479C>T
NC_000019.10:g.13303982G>A
More... 		07/14/2021 intron variant benign Acetazolamide-responsive episodic ataxia syndrome; Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia; Ataxia, familial, paroxysmal; Cerebellar ataxia, paroxysmal, Acetazolamide-responsive; Cerebellopathy, hereditary paroxysmal; Epileptic encephalopathy, early infantile, 42; Episodic ataxia with nystagmus; Migraine, familial hemiplegic 1, with progressive cerebellar ataxia; none provided; Nystagmus-associated episodic ataxia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNA1A
Accession:NM_001174080
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001554768 CLINVAR
  RCV001554769 CLINVAR
  RCV001554770 CLINVAR
  RCV001554771 CLINVAR
  RCV001676062 CLINVAR
dbSNP (RS) rs4926263 CLINVAR
MedGen C0752124 CLINVAR
  C1720416 CLINVAR
  C1832884 CLINVAR
  C3661900 CLINVAR
  C4310716 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 108500 CLINVAR
  141500 CLINVAR
  183086 CLINVAR
  601011 CLINVAR
  617106 CLINVAR
SNOMED CT 420932006 CLINVAR