Variant (rsID / SNP)

rs11538384

rs11538384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ8B. Location: chromosome 19, position 41,220,029. Clinical significance in the table: Benign.

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Reference-table entries

COQ8BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:41220029
Cytoband: 19q13.2
HGVS: NM_024876.4(COQ8B):c.232C>T (p.Arg78Cys)
Allele change: Missense_R78C

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.