Variant (rsID / SNP)
rs142645936
rs142645936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX2. Location: chromosome 8, position 77,895,667. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PEX2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:77895667
- Cytoband
- 8q21.13
- HGVS
- NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
- Allele change
- Missense_W250R
Associated conditions / phenotypes
Peroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder 5A (Zellweger)|Peroxisome biogenesis disorder 5B|Zellweger spectrum disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.