RGD:156173427 Rat Genome Database

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Variant: RGD:156173427 -  Homo sapiens

RGD ID: 156173427
ClinVar ID: CV2003988
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  LOC126862864  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 13,372,248
GRCh38 19 13,261,434
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127222.2:c.4250+16C>G
NM_001127221.2:c.4253+16C>G
NM_001174080.2:c.4253+16C>G
NM_000068.4:c.4262+16C>G
More... 		08/03/2022 intron variant 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; Nystagmus-associated episodic ataxia
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 RCV002642791 CLINVAR
MedGen C1720416 CLINVAR
NCBI Gene CACNA1A CLINVAR
  LOC126862864 CLINVAR
OMIM 108500 CLINVAR
  601011 CLINVAR
  617106 CLINVAR
SNOMED CT 420932006 CLINVAR