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Variant (rsID / SNP)

rs147530802

PEX12

rs147530802 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX12. Location: chromosome 17, position 33,904,939. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PEX12Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
17:33904939
Cytoband
17q12
HGVS
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
Allele change
Missense_R34S

Associated conditions / phenotypes

Peroxisome biogenesis disorder type 3B|Peroxisome biogenesis disorder 3A (Zellweger)

Public references

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