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Variant (rsID / SNP)

rs36093416

UQCRQGDF9

rs36093416 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UQCRQ, GDF9. Location: chromosome 5, position 132,202,681. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

UQCRQConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:132202681
Cytoband
5q31.1
HGVS
NM_014402.5(UQCRQ):c.108C>G (p.Pro36=)
Allele change
Synonymous_P36P

Associated conditions / phenotypes

Mitochondrial complex III deficiency nuclear type 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.