Variant (rsID / SNP)

rs200720523

rs200720523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX5. Location: chromosome 12, position 7,351,610. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PEX5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:7351610
Cytoband: 12p13.31
HGVS: NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg)
Allele change: Missense_P151R

Associated conditions / phenotypes

Peroxisome biogenesis disorder 2A (Zellweger)|Peroxisome biogenesis disorder 2B

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.