Variant (rsID / SNP)
rs764771123
rs764771123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX2. Location: chromosome 8, position 77,896,070. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PEX2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 8:77896070
- Cytoband
- 8q21.13
- HGVS
- NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
Associated conditions / phenotypes
Peroxisome biogenesis disorder 5A (Zellweger)|Peroxisome biogenesis disorder 5B|Peroxisome biogenesis disorder|Zellweger spectrum disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.