Variant (rsID / SNP)

rs2274515

rs2274515 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX6. Location: chromosome 6, position 42,933,526. 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: 6:42933526
Cytoband: 6p21.1
HGVS: NM_000287.4(PEX6):c.2364G>A (p.Val788=)
Allele change: Synonymous_V700V

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.