RGD:12890953 Rat Genome Database

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Variant: RGD:12890953 -  Homo sapiens

RGD ID: 12890953
RS ID: rs377238291
ClinVar ID: CV390860
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1A2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 160,100,390
GRCh38 1 160,130,600
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_6:g.19843A>G
NG_008014.1:g.19843A>G
NC_000001.11:g.160130600A>G
NC_000001.10:g.160100390A>G
More... 		05/08/2016 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP1A2
Accession:XM_047421286
Location:INTRON

Gene Symbol:ATP1A2
Accession:NM_000702
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532   PMID:36480001  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000475652 CLINVAR
dbSNP (RS) rs377238291 CLINVAR
MedGen C0338484 CLINVAR
NCBI Gene ATP1A2 CLINVAR
OMIM 182340 CLINVAR
SNOMED CT 95656000 CLINVAR