Variant (rsID / SNP)

rs34825053

rs34825053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX1. Location: chromosome 7, position 92,118,654. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PEX1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:92118654
Cytoband: 7q21.2
HGVS: NM_000466.3(PEX1):c.3720C>T (p.His1240=)
Allele change: Synonymous_H1183H

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.