Variant (rsID / SNP)

rs762324548

rs762324548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX1. Location: chromosome 7, position 92,123,805. Clinical significance in the table: Pathogenic.

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Reference-table entries

PEX1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 7:92123805
Cytoband: 7q21.2
HGVS: NM_000466.3(PEX1):c.2922del (p.Leu974fs)

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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