Variant (rsID / SNP)

rs61752132

rs61752132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX26. Location: chromosome 22, position 18,561,276. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PEX26Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:18561276
Cytoband: 22q11.21
HGVS: NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)
Allele change: Missense_L45P

Associated conditions / phenotypes

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

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.