Variant (rsID / SNP)
rs121434455
rs121434455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX1. Location: chromosome 7, position 92,134,126. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PEX1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:92134126
- Cytoband
- 7q21.2
- HGVS
- NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
- Allele change
- Silent
Associated conditions / phenotypes
Peroxisome biogenesis disorder 1A (Zellweger)|Zellweger spectrum disorders|Heimler syndrome 1|Peroxisome biogenesis disorder 1B|Peroxisome biogenesis disorder 1A (Zellweger)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.