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Variant (rsID / SNP)

rs138889960

NDUFA11

rs138889960 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFA11. Location: chromosome 19, position 5,896,968. 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
19:5896968
Cytoband
19p13.3
HGVS
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=)
Allele change
Synonymous_P46P

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.