RGD:13523643 Rat Genome Database

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Variant: RGD:13523643 -  Homo sapiens

RGD ID: 13523643
RS ID: rs976595665
ClinVar ID: CV490833
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 13,397,785
GRCh38 19 13,286,971
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_7:g.224490C>T
NG_011569.1:g.224490C>T
NC_000019.10:g.13286971G>A
NC_000019.9:g.13397785G>A
More... 		06/16/2020 intron variant likely benign|uncertain significance Acetazolamide-responsive episodic ataxia syndrome; Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia; Ataxia, familial, paroxysmal; Cerebellar ataxia, paroxysmal, Acetazolamide-responsive; Cerebellopathy, hereditary paroxysmal; Developmental and epileptic encephalopathy, 42; Epileptic encephalopathy, early infantile, 42; Episodic ataxia with nystagmus; Migraine, familial hemiplegic 1, with progressive cerebellar ataxia; Migraine, familial hemiplegic, 1; none provided; Nystagmus-associated episodic ataxia; Spinocerebellar ataxia type 6
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001174080
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000593263 CLINVAR
  RCV001462762 CLINVAR
  RCV002265814 CLINVAR
dbSNP (RS) rs976595665 CLINVAR
MedGen C1720416 CLINVAR
  C3661900 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 108500 CLINVAR
  141500 CLINVAR
  183086 CLINVAR
  601011 CLINVAR
  617106 CLINVAR
SNOMED CT 420932006 CLINVAR