Variant (rsID / SNP)
rs28533800
rs28533800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NUBPL. Location: chromosome 14, position 32,329,837. Clinical significance in the table: Likely benign.
Reference-table entries
NUBPLLikely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:32329837
- Cytoband
- 14q12
- HGVS
- NM_025152.3(NUBPL):c.*1451C>T
- 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.