Variant (rsID / SNP)

rs121913659

rs121913659 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFV1. Location: chromosome 11, position 67,379,696. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NDUFV1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:67379696
Cytoband: 11q13.2
HGVS: NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)
Allele change: Missense_T414M

Associated conditions / phenotypes

Mitochondrial complex I deficiency|Mitochondrial complex 1 deficiency, nuclear type 4|Mitochondrial complex I deficiency, nuclear type 1

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.