RGD:11662419 Rat Genome Database

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Variant: RGD:11662419 -  Homo sapiens

RGD ID: 11662419
RS ID: rs886053460
ClinVar ID: CV346079
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127887980  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 73,975,259
GRCh38 17 75,979,178
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.5186C>G
NC_000017.11:g.75979178G>C
NC_000017.10:g.73975259G>C
NM_004035.6:c.-105C>G
More... 		06/14/2016 5 prime utr variant 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 Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000385986 CLINVAR
dbSNP (RS) rs886053460 CLINVAR
MedGen C1849678 CLINVAR
NCBI Gene ACOX1 CLINVAR
OMIM 264470 CLINVAR
  609751 CLINVAR
SNOMED CT 238069004 CLINVAR