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Variant (rsID / SNP)

rs139345520

PEX10

rs139345520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX10. Location: chromosome 1, position 2,338,250. 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
1:2338250
Cytoband
1p36.32
HGVS
NM_002617.4(PEX10):c.685G>C (p.Val229Leu)
Allele change
Missense_V229L

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.