RGD:12838322 Rat Genome Database

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Variant: RGD:12838322 -  Homo sapiens

RGD ID: 12838322
RS ID: rs1057521334
ClinVar ID: CV369451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH7A1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 125,911,175
GRCh38 5 126,575,483
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001201377.2:c.567-19T>A
NG_008600.2:g.24908T>A
NC_000005.10:g.126575483A>T
NC_000005.9:g.125911175A>T
More... 		12/23/2015 intron variant likely benign AllHighlyPenetrant

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 RCV000426747 CLINVAR
dbSNP (RS) rs1057521334 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ALDH7A1 CLINVAR
OMIM 107323 CLINVAR