Variant (rsID / SNP)

rs185115432

rs185115432 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX1. Location: chromosome 7, position 92,120,626. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PEX1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:92120626
Cytoband: 7q21.2
HGVS: NM_000466.3(PEX1):c.3398C>T (p.Ser1133Phe)
Allele change: Missense_S1076F

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.