RGD:26921299 Rat Genome Database

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Variant: RGD:26921299 -  Homo sapiens

RGD ID: 26921299
RS ID: rs1367410532
ClinVar ID: CV822891
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1A2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 160,091,040
GRCh38 1 160,121,250
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000702.4:c.176A>C
LRG_6:g.10493A>C
NG_008014.1:g.10493A>C
NC_000001.11:g.160121250A>C
More... 		12/12/2019 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP1A2
Accession:NM_000702
Location:EXON

Gene Symbol:ATP1A2
Accession:XM_047421286
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001049645 CLINVAR
dbSNP (RS) rs1367410532 CLINVAR
MedGen C0338484 CLINVAR
NCBI Gene ATP1A2 CLINVAR
OMIM 182340 CLINVAR
SNOMED CT 95656000 CLINVAR