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Variant (rsID / SNP)

rs147707348

PEX13

rs147707348 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX13. Location: chromosome 2, position 61,258,816. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PEX13Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:61258816
Cytoband
2p15
HGVS
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)
Allele change
Missense_V119I

Associated conditions / phenotypes

Peroxisome biogenesis disorder 11A (Zellweger)

Public references

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