RGD:12888941 Rat Genome Database

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Variant: RGD:12888941 -  Homo sapiens

RGD ID: 12888941
RS ID: rs373698149
ClinVar ID: CV403265
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1A3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 42,486,262
GRCh38 19 41,982,110
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008015.1:g.17121C>G
NC_000019.10:g.41982110G>C
NC_000019.9:g.42486262G>C
LRG_1186:g.17121C>G
More... 		03/15/2020 intron variant benign|likely benign adolescent <1 / 1 000 000 CAPOS syndrome; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; DYT-ATP1A3; Rapid-Onset Dystonia-Parkinsonism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP1A3
Accession:NM_001256214
Location:INTRON

Gene Symbol:ATP1A3
Accession:XM_047438862
Location:INTRON

Gene Symbol:ATP1A3
Accession:NM_152296
Location:INTRON

Gene Symbol:ATP1A3
Accession:NM_001256213
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001135540 CLINVAR
  RCV001135541 CLINVAR
  RCV002259956 CLINVAR
  RCV002259957 CLINVAR
dbSNP (RS) rs373698149 CLINVAR
MedGen C1832466 CLINVAR
  C1868681 CLINVAR
  C3553788 CLINVAR
  C5562018 CLINVAR
NCBI Gene ATP1A3 CLINVAR
OMIM 128235 CLINVAR
  182350 CLINVAR
  601338 CLINVAR
  614820 CLINVAR
  619606 CLINVAR