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Variant (rsID / SNP)

rs199543483

NDUFV1

rs199543483 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFV1. Location: chromosome 11, position 67,376,072. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFV1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:67376072
Cytoband
11q13.2
HGVS
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=)
Allele change
Synonymous_L60L

Associated conditions / phenotypes

Leigh syndrome|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.