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Variant (rsID / SNP)

rs143412169

PEX14

rs143412169 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX14. Location: chromosome 1, position 10,689,735. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PEX14Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:10689735
Cytoband
1p36.22
HGVS
NM_004565.3(PEX14):c.825G>A (p.Ser275=)
Allele change
Synonymous_S275S

Associated conditions / phenotypes

Peroxisome biogenesis disorder 13A (Zellweger)|Peroxisome biogenesis disorder, complementation group K

Public references

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