Variant (rsID / SNP)

rs146452560

rs146452560 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX10. Location: chromosome 1, position 2,340,173. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PEX10Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:2340173
Cytoband: 1p36.32
HGVS: NM_002617.4(PEX10):c.318G>A (p.Leu106=)
Allele change: Synonymous_L106L

Associated conditions / phenotypes

Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders

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.