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Variant (rsID / SNP)

rs200800978

NDUFB3

rs200800978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFB3. Location: chromosome 2, position 201,950,249. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFB3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:201950249
Cytoband
2q33.1
HGVS
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)
Allele change
Nonsense_G70X

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 25|Inborn genetic diseases

Public references

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