Variant (rsID / SNP)
rs1805137
rs1805137 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX7. Location: chromosome 6, position 137,219,351. Clinical significance in the table: Pathogenic.
Reference-table entries
PEX7Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:137219351
- Cytoband
- 6q23.3
- HGVS
- NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
- Allele change
- Nonsense_L292X
Associated conditions / phenotypes
Rhizomelic chondrodysplasia punctata type 1|PEX7-Related Disorders|Peroxisome biogenesis disorder 9B|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Phytanic acid storage disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.