Variant (rsID / SNP)

rs4850

rs4850 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UQCRC2. Location: chromosome 16, position 21,976,762. Clinical significance in the table: Benign.

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Reference-table entries

UQCRC2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:21976762
Cytoband: 16p12.2
HGVS: NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln)
Allele change: Missense_R183Q

Associated conditions / phenotypes

Mitochondrial complex III deficiency nuclear type 5

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.