Variant (rsID / SNP)

rs370009373

rs370009373 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS1. Location: chromosome 2, position 206,997,831. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NDUFS1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:206997831
Cytoband: 2q33.3
HGVS: NM_005006.7(NDUFS1):c.1393-2A>C
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 5|See cases

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.