Variant (rsID / SNP)

rs146837138

rs146837138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF5, ESF1. Location: chromosome 20, position 13,765,892. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NDUFAF5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:13765892
Cytoband: 20p12.1
HGVS: NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr)
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex I deficiency

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.