Variant (rsID / SNP)

rs376824422

rs376824422 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX6. Location: chromosome 6, position 42,946,482. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PEX6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:42946482
Cytoband: 6p21.1
HGVS: NM_000287.4(PEX6):c.407C>A (p.Pro136Gln)
Allele change: Missense_P136Q

Associated conditions / phenotypes

Peroxisome biogenesis disorder|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.