Variant (rsID / SNP)

rs13941

rs13941 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UQCC3, LBHD1. Location: chromosome 11, position 62,439,569. Clinical significance in the table: Benign.

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Reference-table entries

UQCC3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:62439569
Cytoband: 11q12.3
HGVS: NM_001085372.3(UQCC3):c.265G>A (p.Gly89Ser)
Allele change: Missense_G89S

Associated conditions / phenotypes

Mitochondrial complex III deficiency nuclear type 9

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.