RGD:11624046 Rat Genome Database

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Variant: RGD:11624046 -  Homo sapiens

RGD ID: 11624046
RS ID: rs144899104
ClinVar ID: CV340301
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACOX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 73,941,016
GRCh38 17 75,944,935
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_008190.1:g.39429C>T
NC_000017.11:g.75944935G>A
NC_000017.10:g.73941016G>A
NM_004035.6:c.*1813C>T
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance neonatal <1 / 1 000 000 Peroxisomal acyl-CoA oxidase deficiency; Pseudoadrenoleukodystrophy; Pseudoneonatal adrenoleukodystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACOX1
Accession:NM_004035
Location:3UTRS;EXON

Gene Symbol:ACOX1
Accession:XM_047436182
Location:3UTRS;EXON

Gene Symbol:ACOX1
Accession:XM_047436183
Location:3UTRS;EXON

Gene Symbol:ACOX1
Accession:NM_001185039
Location:3UTRS;EXON

Gene Symbol:ACOX1
Accession:NM_007292
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000380679 CLINVAR
dbSNP (RS) rs144899104 CLINVAR
MedGen C1849678 CLINVAR
NCBI Gene ACOX1 CLINVAR
OMIM 264470 CLINVAR
  609751 CLINVAR
SNOMED CT 238069004 CLINVAR