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Variant (rsID / SNP)

rs61753220

PEX6

rs61753220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX6. Location: chromosome 6, position 42,946,036. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PEX6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:42946036
Cytoband
6p21.1
HGVS
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)
Allele change
Silent

Associated conditions / phenotypes

Peroxisome biogenesis disorder 4A (Zellweger)|Peroxisome biogenesis disorder|Zellweger spectrum disorders

Public references

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