Variant (rsID / SNP)

rs151279101

rs151279101 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS1. Location: chromosome 2, position 207,006,704. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

NDUFS1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:207006704
Cytoband: 2q33.3
HGVS: NM_005006.7(NDUFS1):c.1223G>A (p.Arg408His)
Allele change: Missense_R408H

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 5

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.