Variant (rsID / SNP)

rs443751

rs443751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COA7. Location: chromosome 1, position 53,153,432. The table records no clinical significance for this variant.

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Reference-table entries

COA7Not classified

Variant type: missense_variant
Chromosome / position: 1:53153432
HGVS: NM_023077.3,c.656A>G,p.Lys219Arg
Allele change: Missense_K219R

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.