Variant (rsID / SNP)

rs201732170

rs201732170 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF6. Location: chromosome 8, position 96,047,755. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFAF6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:96047755
Cytoband: 8q22.1
HGVS: NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)
Allele change: Missense_I13T

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 17|Leigh syndrome

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.