RGD:152142396 Rat Genome Database

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Variant: RGD:152142396 -  Homo sapiens

RGD ID: 152142396
RS ID: rs375485447
ClinVar ID: CV1526664
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP13A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 17,312,948
GRCh38 1 16,986,453
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_834t1:c.3405+10G>A
NM_001141974.3:c.3104-95G>A
NM_001141973.3:c.3390+10G>A
NM_022089.4:c.3405+10G>A
More... 		12/02/2021 intron variant likely benign Autosomal recessive spastic paraplegia type 78; 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:NM_001141974
Location:INTRON

Gene Symbol:ATP13A2
Accession:NM_001141973
Location:INTRON

Gene Symbol:ATP13A2
Accession:NM_022089
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_005245811
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_005245810
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_005245812
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_005245815
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_006710512
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_006710513
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_011541128
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_011541129
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000845
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000846
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000849
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000847
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000844
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000850
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000848
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416542
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416553
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416550
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416569
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416556
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416571
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416538
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416549
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416568
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416539
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416548
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416563
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416537
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416546
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416564
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416567
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416554
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416560
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416544
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416551
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416566
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416570
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416565
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416547
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416562
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002084334 CLINVAR
dbSNP (RS) rs375485447 CLINVAR
MedGen C1847640 CLINVAR
NCBI Gene ATP13A2 CLINVAR
OMIM 606693 CLINVAR
  610513 CLINVAR
  617225 CLINVAR