RGD:12843099 Rat Genome Database

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Variant: RGD:12843099 -  Homo sapiens

RGD ID: 12843099
RS ID: rs373246283
ClinVar ID: CV379368
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  LOC127890578  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 13,342,509
GRCh38 19 13,231,695
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.5403+15A>C
LRG_7t1:c.5403+15A>C
NC_000019.9:g.13342509T>G
LRG_7:g.279766A>C
More... 		12/14/2021 intron variant benign|likely benign 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; none provided; Nystagmus-associated episodic ataxia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001174080
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 RCV001704421 CLINVAR
  RCV002059783 CLINVAR
dbSNP (RS) rs373246283 CLINVAR
MedGen C1720416 CLINVAR
  C3661900 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 108500 CLINVAR
  601011 CLINVAR
  617106 CLINVAR
SNOMED CT 420932006 CLINVAR