Gene: CHEK2
Coding Change (c.): c.1169A>C
Protein Change (p.): p.Tyr390Ser
ClinVar Name: NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
ClinVar Number: 141818
Variant Forum: https://www.facebook.com/groups/CHEK2MutationSupportGroup