Variant (rsID / SNP)

rs116692495

rs116692495 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX3. Location: chromosome 6, position 143,772,176. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PEX3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:143772176
Cytoband: 6q24.2
HGVS: NM_003630.3(PEX3):c.-4A>G
Allele change: Silent

Associated conditions / phenotypes

Peroxisome biogenesis disorder 10A (Zellweger)

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.