Variant (rsID / SNP)

rs191446011

rs191446011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ9. Location: chromosome 16, position 57,490,480. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COQ9Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:57490480
Cytoband: 16q21
HGVS: NM_020312.4(COQ9):c.443A>C (p.His148Pro)
Allele change: Missense_H148P

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.