Variant (rsID / SNP)

rs1129187

rs1129187 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX6. Location: chromosome 6, position 42,932,200. Clinical significance in the table: Benign.

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Reference-table entries

PEX6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:42932200
Cytoband: 6p21.1
HGVS: NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)
Allele change: Missense_P851Q

Associated conditions / phenotypes

Peroxisome biogenesis disorder 4A (Zellweger)|Zellweger spectrum disorders|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 4B|Heimler syndrome 2

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.