RGD:42722870 Rat Genome Database

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Variant: RGD:42722870 -  Homo sapiens

RGD ID: 42722870
ClinVar ID: CV985293
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 112,227,739
GRCh38 12 111,789,935
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204889.2:c.411+1G>T
NG_012250.1:g.28394G>T
NC_000012.11:g.112227739G>T
NM_000690.3:c.552+1G>T
More... 		12/07/2019 splice donor variant pathogenic

Variant Details
Variant Transcripts
Gene Symbol:ALDH2
Accession:NM_001204889
Location:INTRON

Gene Symbol:ALDH2
Accession:NM_000690
Location:INTRON

Variant Samples