RGD:13616816 Rat Genome Database

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Variant: RGD:13616816 -  Homo sapiens

RGD ID: 13616816
RS ID: rs201175414
ClinVar ID: CV533165
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1A3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 42,486,267
GRCh38 19 41,982,115
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152296.5:c.994-9G>A
NG_008015.1:g.17116G>A
NC_000019.10:g.41982115C>T
NC_000019.9:g.42486267C>T
More... 		01/06/2021 intron variant likely benign DYT-ATP1A3; none provided; Rapid-Onset Dystonia-Parkinsonism
Disease Annotations     Click to see Annotation Detail View
dystonia 12  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:ATP1A3
Accession:NM_152296
Location:INTRON

Gene Symbol:ATP1A3
Accession:NM_001256214
Location:INTRON

Gene Symbol:ATP1A3
Accession:NM_001256213
Location:INTRON

Gene Symbol:ATP1A3
Accession:XM_047438862
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000644941 CLINVAR
  RCV001592796 CLINVAR
  RCV003945630 CLINVAR
dbSNP (RS) rs201175414 CLINVAR
MedGen C1868681 CLINVAR
  C3661900 CLINVAR
NCBI Gene ATP1A3 CLINVAR
OMIM 128235 CLINVAR
  182350 CLINVAR