Variant (rsID / SNP)

rs41295954

rs41295954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOK1. Location: chromosome 2, position 74,783,865. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DOK1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:74783865
Cytoband: 2p13.1
HGVS: NM_001381.5(DOK1):c.1070A>G (p.Lys357Arg)
Allele change: Missense_K218R

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.