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Variant (rsID / SNP)

rs145430946

PEX1

rs145430946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX1. Location: chromosome 7, position 92,130,962. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PEX1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:92130962
Cytoband
7q21.2
HGVS
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
Allele change
Synonymous_F757F

Associated conditions / phenotypes

Peroxisome biogenesis disorder 1A (Zellweger)|Zellweger spectrum disorders

Public references

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