{{Rsnum
|rsid=121434455
|Chromosome=7
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PEX1
|position=92504812
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PEX1
}}{{omim
|id=602136
|rsnum=121434455
|variant=0002
}}{{ClinVar
|rsid=121434455
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=92134126
|CHROM=7
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=PEX1:5189
|GENE_NAME=PEX1
|GENE_ID=5189
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.92134126A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=602136.0002
|CLNSIG=5
|CLNCUI=C0043459; C0282525
|CLNDBN=Zellweger syndrome; Peroxisome biogenesis disorders, Zellweger syndrome spectrum
|Disease=Zellweger syndrome; Peroxisome biogenesis disorders
|CLNACC=RCV000007949.1; RCV000032928.1
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1448:C0043459:214100:912:88469006; NBK1448:C1832200:601539
}}{{PMID Auto
|PMID=11439091
|Title=Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
|OA=1
}}