Variant (rsID / SNP)

rs201149065

rs201149065 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBXL4. Location: chromosome 6, position 99,365,582. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FBXL4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:99365582
Cytoband: 6q16.2
HGVS: NM_001278716.2(FBXL4):c.526T>C (p.Trp176Arg)
Allele change: Missense_W176R

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 13

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.