Variant (rsID / SNP)

rs200401432

rs200401432 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NUBPL. Location: chromosome 14, position 32,031,331. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NUBPLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:32031331
Cytoband: 14q12
HGVS: NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg)
Allele change: Silent

Associated conditions / phenotypes

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.