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Variant (rsID / SNP)

rs12484657

PEX26

rs12484657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX26. Location: chromosome 22, position 18,566,288. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PEX26Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
22:18566288
Cytoband
22q11.21
HGVS
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)
Allele change
Missense_L153V

Associated conditions / phenotypes

Peroxisome biogenesis disorder 1A (Zellweger)|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.