RGD:11664136 Rat Genome Database

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Variant: RGD:11664136 -  Homo sapiens

RGD ID: 11664136
ClinVar ID: CV343726
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH3A2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 19,579,263
GRCh38 17 19,675,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007095.2:g.32200G>A
NC_000017.11:g.19675950G>A
NC_000017.10:g.19579263G>A
NM_000382.3:c.*378G>A
More...
06/14/2016 3 prime utr variant uncertain significance infancy 1-9 / 1 000 000 FADH deficiency; FAO deficiency; FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY; Fatty aldehyde dehydrogenase deficiency; Ichthyosis, spastic neurologic disorder, and oligophrenia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALDH3A2
Accession:NM_000382
Location:3UTRS;EXON

Gene Symbol:ALDH3A2
Accession:NM_001031806
Location:3UTRS;EXON

Gene Symbol:ALDH3A2
Accession:NM_001369148
Location:3UTRS;EXON

Gene Symbol:ALDH3A2
Accession:NM_001369137
Location:3UTRS;EXON

Gene Symbol:ALDH3A2
Accession:NM_001369138
Location:3UTRS;EXON

Gene Symbol:ALDH3A2
Accession:NM_001369146
Location:3UTRS;EXON

Gene Symbol:ALDH3A2
Accession:NM_001369136
Location:3UTRS;EXON

Gene Symbol:ALDH3A2
Accession:NM_001369139
Location:3UTRS;EXON

Gene Symbol:ALDH3A2
Accession:XM_047435622
Location:3UTRS;EXON

Gene Symbol:ALDH3A2
Accession:XM_024450651
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000402886 CLINVAR
MedGen C0037231 CLINVAR
NCBI Gene ALDH3A2 CLINVAR
OMIM 270200 CLINVAR
  609523 CLINVAR
SNOMED CT 111303009 CLINVAR