Variant (rsID / SNP)

rs377337949

rs377337949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX1. Location: chromosome 7, position 92,151,568. 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: 7:92151568
Cytoband: 7q21.2
HGVS: NM_000466.3(PEX1):c.130-9T>C
Allele change: Silent

Associated conditions / phenotypes

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.