Variant (rsID / SNP)

rs61752137

rs61752137 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX5. Location: chromosome 12, position 7,361,150. Clinical significance in the table: Pathogenic.

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Reference-table entries

PEX5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:7361150
Cytoband: 12p13.31
HGVS: NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter)
Allele change: Nonsense_R390X

Associated conditions / phenotypes

Peroxisome biogenesis disorder 2A (Zellweger)|Peroxisome biogenesis disorder 2B

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.