Variant (rsID / SNP)

rs115960224

rs115960224 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX6. Location: chromosome 6, position 42,936,070. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PEX6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:42936070
Cytoband: 6p21.1
HGVS: NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)
Allele change: Missense_A461V

Associated conditions / phenotypes

Peroxisome biogenesis disorder 4A (Zellweger)|Peroxisome biogenesis disorder|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.