Variant (rsID / SNP)

rs77216981

rs77216981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFA10. Location: chromosome 2, position 240,897,186. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NDUFA10Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:240897186
Cytoband: 2q37.3
HGVS: NM_004544.4(NDUFA10):c.*3349G>A
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome

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.