RGD:127243039 Rat Genome Database

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Variant: RGD:127243039 -  Homo sapiens

RGD ID: 127243039
RS ID: rs2060983144
ClinVar ID: CV1056543
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 13,565,920
GRCh38 19 13,455,106
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000068.4:c.399+1G>A
NM_001127221.2:c.399+1G>A
NM_001127222.2:c.399+1G>A
NM_001174080.2:c.399+1G>A
More... 		05/22/2020 splice donor variant likely pathogenic 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:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001174080
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10371528   PMID:16199547   PMID:19486177   PMID:25735478   PMID:27250579   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001377033 CLINVAR
dbSNP (RS) rs2060983144 CLINVAR
MedGen C1720416 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 108500 CLINVAR
  601011 CLINVAR
  617106 CLINVAR
SNOMED CT 420932006 CLINVAR