RGD:12847953 Rat Genome Database

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Variant: RGD:12847953 -  Homo sapiens

RGD ID: 12847953
RS ID: rs202005119
ClinVar ID: CV379430
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 13,419,223
GRCh38 19 13,308,409
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.1784+7C>A
LRG_7t1:c.1784+7C>A
LRG_7:g.203052C>A
NG_011569.1:g.203052C>A
More... 		11/14/2020 intron variant likely benign Acetazolamide-responsive episodic ataxia syndrome; Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia; AllHighlyPenetrant; Ataxia, familial, paroxysmal; CACNA1A-related condition; 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_001174080
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000444410 CLINVAR
  RCV000913780 CLINVAR
  RCV001079197 CLINVAR
  RCV003985347 CLINVAR
dbSNP (RS) rs202005119 CLINVAR
MedGen C1720416 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 108500 CLINVAR
  601011 CLINVAR
  617106 CLINVAR
SNOMED CT 420932006 CLINVAR