Variant (rsID / SNP)

rs139770523

rs139770523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ4. Location: chromosome 9, position 131,088,143. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COQ4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:131088143
Cytoband: 9q34.11
HGVS: NM_016035.5(COQ4):c.385C>T (p.Arg129Cys)
Allele change: Missense_R129C

Associated conditions / phenotypes

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

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.