Variant (rsID / SNP)

rs142982022

rs142982022 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFV1. Location: chromosome 11, position 67,377,904. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NDUFV1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:67377904
Cytoband: 11q13.2
HGVS: NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp)
Allele change: Missense_G179D

Associated conditions / phenotypes

Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome

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.