Variant (rsID / SNP)

rs199422224

rs199422224 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS1. Location: chromosome 2, position 207,009,733. Clinical significance in the table: Pathogenic.

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Reference-table entries

NDUFS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:207009733
Cytoband: 2q33.3
HGVS: NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly)
Allele change: Missense_D252G

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.