Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs375032738

PEX10

rs375032738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX10. Location: chromosome 1, position 2,340,302. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PEX10Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:2340302
Cytoband
1p36.32
HGVS
NM_002617.4(PEX10):c.194-5C>T
Allele change
Silent

Associated conditions / phenotypes

Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder, complementation group 7

Public references

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