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Variant (rsID / SNP)

rs187526749

PEX12

rs187526749 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX12. Location: chromosome 17, position 33,903,202. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PEX12Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:33903202
Cytoband
17q12
HGVS
NM_000286.3(PEX12):c.681-2A>C
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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