RGD:28903521 Rat Genome Database

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Variant: RGD:28903521 -  Homo sapiens

RGD ID: 28903521
RS ID: rs199908120
ClinVar ID: CV880600
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACOX1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 73,945,786
GRCh38 17 75,949,705
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008190.1:g.34659T>C
NC_000017.11:g.75949705A>G
NC_000017.10:g.73945786A>G
NM_004035.6:c.1478+13T>C
More... 		05/01/2021 intron variant conflicting interpretations of pathogenicity|uncertain significance 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:INTRON

Gene Symbol:ACOX1
Accession:XM_047436183
Location:INTRON

Gene Symbol:ACOX1
Accession:XM_047436182
Location:INTRON

Gene Symbol:ACOX1
Accession:NM_007292
Location:INTRON

Gene Symbol:ACOX1
Accession:NM_001185039
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001125689 CLINVAR
dbSNP (RS) rs199908120 CLINVAR
MedGen C1849678 CLINVAR
NCBI Gene ACOX1 CLINVAR
OMIM 264470 CLINVAR
  609751 CLINVAR
SNOMED CT 238069004 CLINVAR