RGD:151836932 Rat Genome Database

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Variant: RGD:151836932 -  Homo sapiens

RGD ID: 151836932
RS ID: rs2145126158
ClinVar ID: CV1367366
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 13,443,738
GRCh38 19 13,332,924
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.1200A>G
NM_001127222.2:c.1200A>G
NM_001174080.2:c.1200A>G
NM_023035.3:c.1200A>G
More... 		08/27/2021 synonymous variant 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; Nystagmus-associated episodic ataxia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNA1A
Accession:NM_000068
Location:EXON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:EXON

Gene Symbol:CACNA1A
Accession:NM_001174080
Location:EXON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:EXON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001994290 CLINVAR
dbSNP (RS) rs2145126158 CLINVAR
MedGen C1720416 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 108500 CLINVAR
  601011 CLINVAR
  617106 CLINVAR
SNOMED CT 420932006 CLINVAR