Variant (rsID / SNP)

rs200440128

rs200440128 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBXL4. Location: chromosome 6, position 99,374,801. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FBXL4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:99374801
Cytoband: 6q16.2
HGVS: NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)
Allele change: Nonsense_R22X

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 13|Inborn genetic diseases|Neurodevelopmental delay

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.