CHEK2 c.349A>G 128071
| 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 |