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Variant (rsID / SNP)

rs61750418

PEX1

rs61750418 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX1. Location: chromosome 7, position 92,131,237. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PEX1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
7:92131237
Cytoband
7q21.2
HGVS
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
Allele change
Nonsense_R738X

Associated conditions / phenotypes

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

Public references

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