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Variant (rsID / SNP)

rs146567534

PEX5

rs146567534 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX5. Location: chromosome 12, position 7,362,713. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PEX5Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
12:7362713
Cytoband
12p13.31
HGVS
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)
Allele change
Missense_S568N

Associated conditions / phenotypes

Peroxisome biogenesis disorder 2A (Zellweger)|Peroxisome biogenesis disorder 2B|Rhizomelic chondrodysplasia punctata type 5|Peroxisome biogenesis disorder 2A (Zellweger)|Peroxisome biogenesis disorder 2B

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.