Variant (rsID / SNP)
rs267608179
rs267608179 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX1. Location: chromosome 7, position 92,123,800. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PEX1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:92123800
- Cytoband
- 7q21.2
- HGVS
- NM_000466.3(PEX1):c.2926+1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Peroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 1B|Peroxisome biogenesis disorder 1B|Peroxisome biogenesis disorder 1A (Zellweger)|Zellweger spectrum disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.