RGD:13214762 Rat Genome Database

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Variant: RGD:13214762 -  Homo sapiens

RGD ID: 13214762
RS ID: rs1553168615
ClinVar ID: CV427662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP13A2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 17,322,729
GRCh38 1 16,996,234
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.20695T>G
NC_000001.11:g.16996234A>C
NC_000001.10:g.17322729A>C
NM_001141973.3:c.1338+20T>G
More... 		05/02/2016 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ATP13A2
Accession:XM_017000845
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416556
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_011541129
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416550
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416570
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000844
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416551
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416562
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_006710513
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000849
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416539
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416537
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_005245811
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000846
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416549
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000847
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_017000850
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416538
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416563
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416548
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416544
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416546
Location:INTRON

Gene Symbol:ATP13A2
Accession:NM_001141973
Location:INTRON

Gene Symbol:ATP13A2
Accession:NM_001141974
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_005245812
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416542
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416569
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_006710512
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416568
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_017000848
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416553
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416565
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_005245815
Location:INTRON

Gene Symbol:ATP13A2
Accession:NM_022089
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_005245810
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_011541128
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416560
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416566
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416571
Location:INTRON

Gene Symbol:ATP13A2
Accession:XM_047416547
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000501664 CLINVAR
dbSNP (RS) rs1553168615 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ATP13A2 CLINVAR
OMIM 610513 CLINVAR