Variant (rsID / SNP)

rs61752123

rs61752123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX2. Location: chromosome 8, position 77,896,060. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PEX2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:77896060
Cytoband: 8q21.13
HGVS: NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)
Allele change: Nonsense_R119X

Associated conditions / phenotypes

Peroxisome biogenesis disorder 5A (Zellweger)|Peroxisome biogenesis disorder 5B|Peroxisome biogenesis disorder|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.