RGD:150408127 Rat Genome Database

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Variant: RGD:150408127 -  Homo sapiens

RGD ID: 150408127
RS ID: rs2304093
ClinVar ID: CV1182700
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  LOC127890573  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 13,320,002
GRCh38 19 13,209,188
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127221.2:c.6529+124G>C
NM_001127222.2:c.6526+124G>C
NM_023035.3:c.6544+124G>C
LRG_7:g.302273G>C
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_000068
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001174080
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001554413 CLINVAR
  RCV001554414 CLINVAR
  RCV001554415 CLINVAR
  RCV001554416 CLINVAR
  RCV001713048 CLINVAR
dbSNP (RS) rs2304093 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