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Variant (rsID / SNP)

rs199842745

NDUFA11

rs199842745 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFA11. Location: chromosome 19, position 5,896,466. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFA11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:5896466
Cytoband
19p13.3
HGVS
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu)
Allele change
Missense_R104L

Associated conditions / phenotypes

Mitochondrial complex I deficiency, nuclear type 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.