Variant (rsID / SNP)

rs2270203

rs2270203 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ4. Location: chromosome 9, position 131,088,076. Clinical significance in the table: Benign.

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Reference-table entries

COQ4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:131088076
Cytoband: 9q34.11
HGVS: NM_016035.5(COQ4):c.318G>A (p.Ser106=)
Allele change: Synonymous_S106S

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.