Variant (rsID / SNP)

rs142838522

rs142838522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX1. Location: chromosome 7, position 92,131,349. Clinical significance in the table: Benign.

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Reference-table entries

PEX1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:92131349
Cytoband: 7q21.2
HGVS: NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
Allele change: Missense_L700F

Associated conditions / phenotypes

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.