Gene

CHEK2

Coding Change (c.)

c.349A>G

Protein Change (p.)

p.Arg117Gly

ClinVar Name

NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)

ClinVar Number

128071

Variant Forum

https://messageboard.facingourrisk.org/t/biallelic-mutation-of-chek2-gene/10405

Other Names

p.R117G:AGG>GGG