Variant (rsID / SNP)

rs616488

rs616488 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX14. Location: chromosome 1, position 10,566,215. Clinical significance in the table: Benign.

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Reference-table entries

PEX14Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:10566215
Cytoband: 1p36.22
HGVS: NM_004565.3(PEX14):c.84+10837A>G
Allele change: Silent

Associated conditions / phenotypes

Peroxisome biogenesis disorder, complementation group K

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.