RGD:9687337 Rat Genome Database

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Variant: RGD:9687337 -  Homo sapiens

RGD ID: 9687337
RS ID: rs606231441
ClinVar ID: CV170974
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1A3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 42,474,336
GRCh38 19 41,970,184
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001256214.2:c.2581+1G>A
NM_152296.4:c.2542+1G>A
NM_001256213.2:c.2575+1G>A
NM_152296.5:c.2542+1G>A
More... 		11/22/2021 splice donor variant pathogenic neonatal/infancy 1-9 / 1 000 000 DYT-ATP1A3; Rapid-Onset Dystonia-Parkinsonism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP1A3
Accession:XM_047438862
Location:INTRON

Gene Symbol:ATP1A3
Accession:NM_001256214
Location:INTRON

Gene Symbol:ATP1A3
Accession:NM_001256213
Location:INTRON

Gene Symbol:ATP1A3
Accession:NM_152296
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:22850527   PMID:24631656   PMID:24983657   PMID:27146299   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000148326 CLINVAR
  RCV001850014 CLINVAR
dbSNP (RS) rs606231441 CLINVAR
MedGen C1868681 CLINVAR
  C3553788 CLINVAR
NCBI Gene ATP1A3 CLINVAR
OMIM 128235 CLINVAR
  182350 CLINVAR
  614820 CLINVAR
OMIM Allele 182350.0017 CLINVAR