RGD:405124772 Rat Genome Database

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Variant: RGD:405124772 -  Homo sapiens

RGD ID: 405124772
ClinVar ID: CV2958243
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1A1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 116,935,457
GRCh38 1 116,392,835
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001160234.2:c.1240-19A>T
NM_000701.8:c.1333-19A>T
NM_001160233.2:c.1333-19A>T
NG_047036.1:g.25651A>T
More... 		10/27/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ATP1A1
Accession:NM_001160233
Location:INTRON

Gene Symbol:ATP1A1
Accession:NM_001160234
Location:INTRON

Gene Symbol:ATP1A1
Accession:NM_000701
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003667815 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ATP1A1 CLINVAR
OMIM 182310 CLINVAR