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Variant (rsID / SNP)

rs35689779

PEX2

rs35689779 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX2. Location: chromosome 8, position 77,896,206. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PEX2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:77896206
Cytoband
8q21.13
HGVS
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)
Allele change
Missense_Y70C

Associated conditions / phenotypes

Peroxisome biogenesis disorder 5A (Zellweger)|Peroxisome biogenesis disorder 5B

Public references

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