Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs41274484

PEX14

rs41274484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX14. Location: chromosome 1, position 10,689,705. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PEX14Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:10689705
Cytoband
1p36.22
HGVS
NM_004565.3(PEX14):c.795A>G (p.Ser265=)
Allele change
Synonymous_S265S

Associated conditions / phenotypes

Peroxisome biogenesis disorder 13A (Zellweger)|Peroxisome biogenesis disorder, complementation group K

Public references

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