Variant (rsID / SNP)

rs116873137

rs116873137 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX5. Location: chromosome 12, position 7,362,449. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PEX5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:7362449
Cytoband: 12p13.31
HGVS: NM_001351132.2(PEX5):c.1718+13A>G
Allele change: Silent

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.