RGD:150338799 Rat Genome Database

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Variant: RGD:150338799 -  Homo sapiens

RGD ID: 150338799
RS ID: rs12051891
ClinVar ID: CV1174481
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACOX1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 73,944,569
GRCh38 17 75,948,488
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001185039.2:c.1615-31T>G
NM_004035.7:c.1729-31T>G
NM_007292.6:c.1729-31T>G
NG_008190.1:g.35876T>G
More... 		07/10/2021 intron variant benign none provided; 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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001543048 CLINVAR
  RCV001543049 CLINVAR
  RCV001655837 CLINVAR
dbSNP (RS) rs12051891 CLINVAR
MedGen C1849678 CLINVAR
  C3661900 CLINVAR
  C5394554 CLINVAR
NCBI Gene ACOX1 CLINVAR
OMIM 264470 CLINVAR
  609751 CLINVAR
  618960 CLINVAR
SNOMED CT 238069004 CLINVAR