Variant (rsID / SNP)

rs114558512

rs114558512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFV2. Location: chromosome 18, position 9,126,817. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NDUFV2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:9126817
Cytoband: 18p11.22
HGVS: NM_021074.5(NDUFV2):c.580-12T>A
Allele change: Silent

Associated conditions / phenotypes

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.