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Variant (rsID / SNP)

rs11550119

PEX19

rs11550119 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX19. Location: chromosome 1, position 160,252,826. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PEX19Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:160252826
Cytoband
1q23.2
HGVS
NM_002857.4(PEX19):c.254C>T (p.Ala85Val)
Allele change
Silent

Associated conditions / phenotypes

Peroxisome biogenesis disorder 12A (Zellweger)

Public references

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