RGD:11627951 Rat Genome Database

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Variant: RGD:11627951 -  Homo sapiens

RGD ID: 11627951
RS ID: rs373531937
ClinVar ID: CV349938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1A3  LOC130064543  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 42,498,292
GRCh38 19 41,994,140
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.5091A>G
NC_000019.10:g.41994140T>C
NC_000019.9:g.42498292T>C
LRG_1186:g.5091A>G
More...
01/13/2018 2kb upstream variant|5 prime utr variant likely benign|uncertain significance adolescent <1 / 1 000 000 Alternating hemiplegia of childhood 2; CAPOS syndrome; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; Developmental and epileptic encephalopathy 99; Dystonia 12; DYT-ATP1A3; Rapid-Onset Dystonia-Parkinsonism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP1A3
Accession:NM_152296
Location:5UTRS;EXON

Gene Symbol:ATP1A3
Accession:NM_001256214
Location:5UTRS;EXON

Gene Symbol:ATP1A3
Accession:NM_001256213
Location:INTRON

Gene Symbol:ATP1A3
Accession:XM_047438862
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000291682 CLINVAR
  RCV000346477 CLINVAR
  RCV002480168 CLINVAR
dbSNP (RS) rs373531937 CLINVAR
MedGen C1832466 CLINVAR
  C1868681 CLINVAR
  C3553788 CLINVAR
NCBI Gene ATP1A3 CLINVAR
  LOC130064543 CLINVAR
OMIM 128235 CLINVAR
  182350 CLINVAR
  601338 CLINVAR
  614820 CLINVAR
  619606 CLINVAR