RGD:11638234 Rat Genome Database

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Variant: RGD:11638234 -  Homo sapiens

RGD ID: 11638234
RS ID: rs112549590
ClinVar ID: CV271819
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP13A2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 17,326,811
GRCh38 1 17,000,316
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009054.1:g.16613A>G
NC_000001.11:g.17000316T>C
NC_000001.10:g.17326811T>C
NM_022089.2:c.841-4A>G
More... 		11/10/2020 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Autosomal recessive spastic paraplegia type 78; none provided; Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia; Park 9; PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP13A2
Accession:XM_047416550
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416569
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_006710513
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416554
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416570
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_005245811
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_005245810
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000845
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416549
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416537
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_005245815
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000844
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416553
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416547
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000846
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416571
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416564
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416565
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000847
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416563
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_005245812
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416539
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416560
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416562
Location:INTRON

Gene Symbol:ATP13A2
Accession:NM_022089
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000850
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416544
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416551
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_011541129
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416542
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416566
Location:INTRON

Gene Symbol:ATP13A2
Accession:NM_001141974
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000848
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416567
Location:INTRON

Gene Symbol:ATP13A2
Accession:NM_001141973
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_006710512
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_011541128
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000849
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416556
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416538
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416568
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416546
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416548
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000298189 CLINVAR
  RCV001459926 CLINVAR
  RCV002446527 CLINVAR
dbSNP (RS) rs112549590 CLINVAR
MedGen C0950123 CLINVAR
  C1847640 CLINVAR
  C3661900 CLINVAR
NCBI Gene ATP13A2 CLINVAR
OMIM 606693 CLINVAR
  610513 CLINVAR
  617225 CLINVAR