Variant (rsID / SNP)

rs104894705

rs104894705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS7. Location: chromosome 19, position 1,391,005. Clinical significance in the table: Pathogenic.

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Reference-table entries

NDUFS7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:1391005
Cytoband: 19p13.3
HGVS: NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)
Allele change: Missense_V122M

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 3

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.