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Variant (rsID / SNP)

rs149153003

PEX26

rs149153003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX26. Location: chromosome 22, position 18,567,938. 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
22:18567938
Cytoband
22q11.21
HGVS
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val)
Allele change
Missense_A243V

Associated conditions / phenotypes

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

Public references

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