Gene entry
NUBPL
NUBP iron-sulfur cluster assembly factor, mitochondrial
- Chromosome
- 14
- Cytoband
- 14q12
- Variants (rsID)
- 49
NUBPL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q12). Its official name is “NUBP iron-sulfur cluster assembly factor, mitochondrial”. The reference table lists 49 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs118161496Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Mitochondrial complex I deficiency|Mitochondrial complex 1 deficiency, nuclear type 21
- rs201073307Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
- rs34570972Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
- rs35330765Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
- rs45468395Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
- rs61752327Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency|Mitochondrial complex I deficiency, nuclear type 1
- rs754769393Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
- rs77539990Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
- rs28533800Likely benignsingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
- rs201430951Pathogenicsingle nucleotide variantMitochondrial complex I deficiency|Inborn genetic diseases|Mitochondrial complex 1 deficiency, nuclear type 21
- rs200401432Uncertain significancesingle nucleotide variantInborn genetic diseases|Mitochondrial complex 1 deficiency, nuclear type 21
- rs201412882Uncertain significancesingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1|See cases
Other listed variants
- rs2184304
- rs7142881
- rs8005857
- rs8009148
- rs10131543
- rs11156692
- rs12432377
- rs12890523
- rs12890624
- rs13313398
- rs34996923
- rs61995636
- rs61996368
- rs61996373
- rs72676908
- rs73257280
- rs74043623
- rs74468004
- rs75020430
- rs76596361
- rs76766370
- rs79189222
- rs80141569
- rs113150400
- rs116912380
- rs117107246
- rs117411668
- rs117518687
- rs117725487
- rs117764441
- rs138904767
- rs139487762
- rs147795519
- rs149345097
- rs149679880
- rs149945695
- rs186660077
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.