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Variant (rsID / SNP)

rs34570972

NUBPL

rs34570972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NUBPL. Location: chromosome 14, position 32,031,327. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NUBPLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:32031327
Cytoband
14q12
HGVS
NM_025152.3(NUBPL):c.162C>T (p.Ser54=)
Allele change
Silent

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.