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Variant (rsID / SNP)

rs35830695

PEX6

rs35830695 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX6. Location: chromosome 6, position 42,933,464. 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
6:42933464
Cytoband
6p21.1
HGVS
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
Allele change
Missense_A721V

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.