Variant (rsID / SNP)
rs61752138
rs61752138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX5. Location: chromosome 12, position 7,362,296. Clinical significance in the table: Pathogenic.
Reference-table entries
PEX5Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:7362296
- Cytoband
- 12p13.31
- HGVS
- NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)
- Allele change
- Missense_N489K
Associated conditions / phenotypes
Peroxisome biogenesis disorder 2B|Peroxisome biogenesis disorder 2A (Zellweger)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.