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Variant (rsID / SNP)

rs45567240

PEX26

rs45567240 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX26. Location: chromosome 22, position 18,562,734. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PEX26Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:18562734
Cytoband
22q11.21
HGVS
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)
Allele change
Missense_Y109H

Associated conditions / phenotypes

Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger)

Public references

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