RGD:14739191 Rat Genome Database

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Variant: RGD:14739191 -  Homo sapiens

RGD ID: 14739191
RS ID: rs62391521
ClinVar ID: CV660848
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH7A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 125,891,500
GRCh38 5 126,555,808
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001202404.2:c.1008+3432G>A
NM_001201377.2:c.1009+123G>A
NM_001182.5:c.1093+123G>A
NG_008600.2:g.44583G>A
More... 		06/19/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ALDH7A1
Accession:NM_001202404
Location:INTRON

Gene Symbol:ALDH7A1
Accession:NM_001201377
Location:INTRON

Gene Symbol:ALDH7A1
Accession:NM_001182
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000839761 CLINVAR
dbSNP (RS) rs62391521 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ALDH7A1 CLINVAR
OMIM 107323 CLINVAR