RGD:13481128 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:13481128 -  Homo sapiens

RGD ID: 13481128
RS ID: rs1400349287
ClinVar ID: CV445724
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH3A2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 19,561,044
GRCh38 17 19,657,731
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007095.2:g.13981T>G
NC_000017.11:g.19657731T>G
NC_000017.10:g.19561044T>G
NM_000382.3:c.681-14T>G
More...
04/12/2022 intron variant likely pathogenic|conflicting interpretations of pathogenicity none provided

Variant Details
Variant Transcripts
Gene Symbol:ALDH3A2
Accession:NM_000382
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001031806
Location:INTRON

Gene Symbol:ALDH3A2
Accession:XM_024450651
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001369148
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001369137
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001369138
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001369146
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001369136
Location:INTRON

Gene Symbol:ALDH3A2
Accession:NM_001369139
Location:INTRON

Gene Symbol:ALDH3A2
Accession:XM_047435622
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24377952   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000521423 CLINVAR
dbSNP (RS) rs1400349287 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ALDH3A2 CLINVAR
OMIM 609523 CLINVAR