Variant (rsID / SNP)

rs201430951

rs201430951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NUBPL. Location: chromosome 14, position 32,068,514. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NUBPLPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:32068514
Cytoband: 14q12
HGVS: NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro)
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial complex I deficiency|Inborn genetic diseases|Mitochondrial complex 1 deficiency, nuclear type 21

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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