Variant (rsID / SNP)

rs2083411

rs2083411 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFA10. Location: chromosome 2, position 240,961,728. Clinical significance in the table: Benign.

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Reference-table entries

NDUFA10Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:240961728
Cytoband: 2q37.3
HGVS: NM_004544.4(NDUFA10):c.105A>G (p.Lys35=)
Allele change: Silent

Associated conditions / phenotypes

Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex 1 deficiency, nuclear type 22

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.