Variant (rsID / SNP)

rs143441644

rs143441644 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ4. Location: chromosome 9, position 131,095,844. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COQ4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:131095844
Cytoband: 9q34.11
HGVS: NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)
Allele change: Missense_R240C

Associated conditions / phenotypes

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome|Spastic ataxia

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.