RGD:38597865 Rat Genome Database

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Variant: RGD:38597865 -  Homo sapiens

RGD ID: 38597865
RS ID: rs2039720333
ClinVar ID: CV800330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP8A2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 26,153,944
GRCh38 13 25,579,806
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001313741.1:c.1748-2A>G
NM_016529.6:c.1868-2A>G
NM_001411006.1:c.1868-2A>G
NC_000013.11:g.25579806A>G
More... 		splice acceptor variant likely pathogenic CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP8A2
Accession:NM_016529
Location:INTRON

Gene Symbol:ATP8A2
Accession:XM_005266419
Location:INTRON

Gene Symbol:ATP8A2
Accession:NM_001313741
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP8A2
Accession:NM_001411006
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP8A2
Accession:XM_011535107
Location:INTRON

Gene Symbol:ATP8A2
Accession:XM_024449369
Location:INTRON

Gene Symbol:ATP8A2
Accession:XM_011535104
Location:INTRON

Gene Symbol:ATP8A2
Accession:XM_017020626
Location:INTRON

Gene Symbol:ATP8A2
Accession:XM_017020625
Location:INTRON

Gene Symbol:ATP8A2
Accession:XM_011535113
Location:INTRON

Gene Symbol:ATP8A2
Accession:XM_047430383
Location:INTRON

Gene Symbol:ATP8A2
Accession:NM_001411005
Location:INTRON

Gene Symbol:ATP8A2
Accession:XM_011535109
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001250920 CLINVAR
dbSNP (RS) rs2039720333 CLINVAR
MedGen C3808977 CLINVAR
NCBI Gene ATP8A2 CLINVAR
OMIM 605870 CLINVAR
  615268 CLINVAR