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Variant (rsID / SNP)

rs149102738

PEX5

rs149102738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX5. Location: chromosome 12, position 7,354,399. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PEX5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:7354399
Cytoband
12p13.31
HGVS
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu)
Allele change
Missense_V202L

Associated conditions / phenotypes

Peroxisome biogenesis disorder 2A (Zellweger)|Peroxisome biogenesis disorder 2B

Public references

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