Variant (rsID / SNP)

rs2274516

rs2274516 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX6. Location: chromosome 6, position 42,932,835. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PEX6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:42932835
Cytoband: 6p21.1
HGVS: NM_000287.4(PEX6):c.2644G>A (p.Val882Ile)
Allele change: Missense_V794I

Associated conditions / phenotypes

Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 4A (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.