Variant (rsID / SNP)

rs139283183

rs139283183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UQCRB. Location: chromosome 8, position 97,244,060. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

UQCRBConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:97244060
Cytoband: 8q22.1
HGVS: NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln)
Allele change: Silent

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.