Variant (rsID / SNP)

rs118203929

rs118203929 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF5. Location: chromosome 20, position 13,782,298. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

NDUFAF5Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:13782298
Cytoband: 20p12.1
HGVS: NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro)
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 16|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.