Variant (rsID / SNP)

rs45489191

rs45489191 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX26. Location: chromosome 22, position 18,573,003. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PEX26Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:18573003
Cytoband: 22q11.21
HGVS: NM_001127649.3(PEX26):c.*2162G>A
Allele change: Silent

Associated conditions / phenotypes

Peroxisome biogenesis disorder 7A (Zellweger)

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.