RGD:26921876 Rat Genome Database

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Variant: RGD:26921876 -  Homo sapiens

RGD ID: 26921876
RS ID: rs767929498
ClinVar ID: CV851123
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1A2  LOC126805890  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 160,095,046
GRCh38 1 160,125,256
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.748+3G>A
LRG_6:g.14499G>A
NG_008014.1:g.14499G>A
NC_000001.11:g.160125256G>A
More... 		12/11/2019 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  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001050945 CLINVAR
  RCV001836937 CLINVAR
dbSNP (RS) rs767929498 CLINVAR
MedGen C0338484 CLINVAR
  C3549447 CLINVAR
NCBI Gene ATP1A2 CLINVAR
  LOC126805890 CLINVAR
OMIM 104290 CLINVAR
  182340 CLINVAR
SNOMED CT 95656000 CLINVAR