Variant (rsID / SNP)

rs121912638

rs121912638 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS8. Location: chromosome 11, position 67,800,683. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NDUFS8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:67800683
Cytoband: 11q13.2
HGVS: NM_002496.4(NDUFS8):c.305G>A (p.Arg102His)
Allele change: Missense_R102H

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 2

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.