Variant (rsID / SNP)
rs113268723
rs113268723 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX7. Location: chromosome 6, position 137,166,790. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
PEX7Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:137166790
- Cytoband
- 6q23.3
- HGVS
- NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
- Allele change
- Missense_Q126P
Associated conditions / phenotypes
Phytanic acid storage disease|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.