Variant (rsID / SNP)

rs61752117

rs61752117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX16. Location: chromosome 11, position 45,936,170. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PEX16Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:45936170
Cytoband: 11p11.2
HGVS: NM_004813.4(PEX16):c.526C>T (p.Arg176Ter)
Allele change: Nonsense_R176X

Associated conditions / phenotypes

Peroxisome biogenesis disorder 8A (Zellweger)|Peroxisome biogenesis disorder

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.