Variant (rsID / SNP)

rs6595440

rs6595440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP120. Location: chromosome 5, position 122,718,736. The table records no clinical significance for this variant.

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Reference-table entries

CEP120Not classified

Variant type: missense_variant
Chromosome / position: 5:122718736
HGVS: NM_001375405.1,c.1804C>G,p.Leu602Val
Allele change: Missense_L576V

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.