Variant (rsID / SNP)

rs2230539

rs2230539 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKN1. Location: chromosome 19, position 14,580,328. The table records no clinical significance for this variant.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PKN1Not classified

Variant type: missense_variant&splice_region_variant
Chromosome / position: 19:14580328
HGVS: NM_213560.3,c.2170A>G,p.Ile724Val
Allele change: Missense_I718V

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.