Variant (rsID / SNP)

rs267606913

rs267606913 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS6. Location: chromosome 5, position 1,815,999. Clinical significance in the table: Pathogenic.

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Reference-table entries

NDUFS6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:1815999
Cytoband: 5p15.33
HGVS: NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr)
Allele change: Missense_C115Y

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 9

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.