Variant (rsID / SNP)
rs61750420
rs61750420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX1. Location: chromosome 7, position 92,130,876. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:92130876
- Cytoband
- 7q21.2
- HGVS
- NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
- Allele change
- Missense_G786D
Associated conditions / phenotypes
Peroxisome biogenesis disorder|Leber congenital amaurosis|Peroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder 1B|Heimler syndrome 1|Peroxisome biogenesis disorder 1B|Heimler syndrome 1|Peroxisome biogenesis disorder 1A (Zellweger)|Peroxisomal disorder|Peroxisome biogenesis disorder 1B|Peroxisome biogenesis disorder 1A (Zellweger)|Retinal dystrophy|Inborn genetic diseases|Zellweger spectrum disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.