Variant (rsID / SNP)

rs9885480

rs9885480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF2. Location: chromosome 5, position 60,448,723. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NDUFAF2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:60448723
Cytoband: 5q12.1
HGVS: NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser)
Allele change: Missense_G151S

Associated conditions / phenotypes

Mitochondrial complex I deficiency, nuclear type 1|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.