Variant (rsID / SNP)

rs7543016

rs7543016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CMPK1. Location: chromosome 1, position 47,799,639. The table records no clinical significance for this variant.

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Reference-table entries

CMPK1Not classified

Variant type: missense_variant
Chromosome / position: 1:47799639
HGVS: NM_016308.3,c.22G>C,p.Gly8Arg
Allele change: Silent

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.