Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200413804

PEX12

rs200413804 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX12. Location: chromosome 17, position 33,903,144. Clinical significance in the table: Uncertain significance.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PEX12Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
17:33903144
Cytoband
17q12
HGVS
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr)
Allele change
Missense_S246Y

Associated conditions / phenotypes

Peroxisome biogenesis disorder type 3B|Peroxisome biogenesis disorder 3A (Zellweger)

Public references

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