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Variant (rsID / SNP)

rs12061667

PEX14

rs12061667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX14. Location: chromosome 1, position 10,678,439. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PEX14Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:10678439
Cytoband
1p36.22
HGVS
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser)
Allele change
Missense_A117S

Associated conditions / phenotypes

Peroxisome biogenesis disorder 13A (Zellweger)|Peroxisome biogenesis disorder, complementation group K

Public references

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