Variant (rsID / SNP)

rs28936697

rs28936697 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX12. Location: chromosome 17, position 33,902,922. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PEX12Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:33902922
Cytoband: 17q12
HGVS: NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)
Allele change: Missense_S320F

Associated conditions / phenotypes

Peroxisomal biogenesis disorder 3b|Peroxisome biogenesis disorder 3A (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.