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Variant (rsID / SNP)

rs149348130

PEX16

rs149348130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX16. Location: chromosome 11, position 45,937,799. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PEX16Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:45937799
Cytoband
11p11.2
HGVS
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)
Allele change
Missense_E68D

Associated conditions / phenotypes

Peroxisome biogenesis disorder 8A (Zellweger)|Peroxisome biogenesis disorder

Public references

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