RGD:11628503 Rat Genome Database

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Variant: RGD:11628503 -  Homo sapiens

RGD ID: 11628503
RS ID: rs919390
ClinVar ID: CV349040
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1A3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 42,471,050
GRCh38 19 41,966,898
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
LRG_1186t1:c.*39C>G
NM_001256214.2:c.*39C>G
NM_152296.5:c.*39C>G
NM_152296.4:c.*39C>G
More... 		07/14/2021 3 prime utr variant benign adolescent <1 / 1 000 000 CAPOS syndrome; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; DYT-ATP1A3; none provided; Rapid-Onset Dystonia-Parkinsonism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP1A3
Accession:NM_152296
Location:3UTRS;EXON

Gene Symbol:ATP1A3
Accession:NM_001256213
Location:3UTRS;EXON

Gene Symbol:ATP1A3
Accession:XM_047438862
Location:3UTRS;EXON

Gene Symbol:ATP1A3
Accession:NM_001256214
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000303064 CLINVAR
  RCV000396748 CLINVAR
  RCV001553873 CLINVAR
  RCV001712051 CLINVAR
dbSNP (RS) rs919390 CLINVAR
MedGen C1832466 CLINVAR
  C1868681 CLINVAR
  C3553788 CLINVAR
  C3661900 CLINVAR
NCBI Gene ATP1A3 CLINVAR
OMIM 128235 CLINVAR
  182350 CLINVAR
  601338 CLINVAR
  614820 CLINVAR