RGD:28875176 Rat Genome Database

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Variant: RGD:28875176 -  Homo sapiens

RGD ID: 28875176
RS ID: rs782424595
ClinVar ID: CV882899
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 42,471,389
GRCh38 19 41,967,237
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152296.5:c.3013+12C>T
LRG_1186:g.31994C>T
NG_008015.1:g.31994C>T
NC_000019.9:g.42471389G>A
More... 		09/20/2022 intron variant conflicting interpretations of pathogenicity|uncertain significance DYT-ATP1A3; Rapid-Onset Dystonia-Parkinsonism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP1A3
Accession:NM_152296
Location:INTRON

Gene Symbol:ATP1A3
Accession:NM_001256214
Location:INTRON

Gene Symbol:ATP1A3
Accession:XM_047438862
Location:INTRON

Gene Symbol:ATP1A3
Accession:NM_001256213
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001133794 CLINVAR
  RCV001133795 CLINVAR
dbSNP (RS) rs782424595 CLINVAR
MedGen C1868681 CLINVAR
  C3553788 CLINVAR
NCBI Gene ATP1A3 CLINVAR
OMIM 128235 CLINVAR
  182350 CLINVAR
  614820 CLINVAR