RGD:13808564 Rat Genome Database

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Variant: RGD:13808564 -  Homo sapiens

RGD ID: 13808564
RS ID: rs1315533129
ClinVar ID: CV577721
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 13,395,881
GRCh38 19 13,285,067
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_7t1:c.3695+1G>A
LRG_7:g.226394G>A
NG_011569.1:g.226394G>A
NC_000019.10:g.13285067C>T
More... 		10/23/2020 splice donor variant pathogenic|likely pathogenic|uncertain significance|not provided 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_001174080
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10371528   PMID:16043807   PMID:16199547   PMID:19486177   PMID:25735478   PMID:25741868   PMID:26467025   PMID:26912519   PMID:27250579   PMID:28492532   PMID:31506931   PMID:33144682  
PMID:36530930  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000710953 CLINVAR
  RCV001197888 CLINVAR
  RCV001264752 CLINVAR
  RCV001328546 CLINVAR
  RCV003458325 CLINVAR
  RCV003768098 CLINVAR
dbSNP (RS) rs1315533129 CLINVAR
MedGen C1720416 CLINVAR
  C1832884 CLINVAR
  C3661900 CLINVAR
  C4310716 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 108500 CLINVAR
  141500 CLINVAR
  183086 CLINVAR
  601011 CLINVAR
  617106 CLINVAR
SNOMED CT 420932006 CLINVAR