Variant (rsID / SNP)

rs62641228

rs62641228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX26. Location: chromosome 22, position 18,562,701. Clinical significance in the table: Pathogenic.

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Reference-table entries

PEX26Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:18562701
Cytoband: 22q11.21
HGVS: NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
Allele change: Missense_R98W

Associated conditions / phenotypes

Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.