{{Rsnum
|rsid=10087163
|Gene=PEX2
|Chromosome=8
|position=76983629
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.008264
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 1.8 | 98.2
| HCB | 0.0 | 1.5 | 98.5
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 1.5 | 98.5
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 3.4 | 96.6
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 3.0 | 97.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=10087163
|allele=G
|frequency=0.992
|uid=1103652358324
|type=homozygous_SNP
|hugo=PXMP3
|ensembl gene=ENSG00000164751
|ensembl transcript=ENST00000357039
|sift=TOLERATED
|disease=Defects in PXMP3 are the cause of infantile Refsum disease (IRD) (MIM:266510). IRD is a progessively less severe form of the PBDs. Features include early onset, mental retardation, minor facial dysmorphism, retinitis pigmentosa, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
}}

{{GET Evidence
|gene=PEX2
|aa_change=Cys184Arg
|aa_change_short=C184R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10087163
|overall_frequency_n=10637
|overall_frequency_d=10758
|overall_frequency=0.988753
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=111
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=8
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}