Variant (rsID / SNP)

rs187737486

rs187737486 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS6. Location: chromosome 5, position 1,814,495. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NDUFS6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:1814495
Cytoband: 5p15.33
HGVS: NM_004553.6(NDUFS6):c.229G>A (p.Val77Met)
Allele change: Missense_V77M

Associated conditions / phenotypes

Mitochondrial complex I deficiency

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.