Gene

ATM

Coding Change (c.)

c.2159G>A

Protein Change (p.)

p.Arg720His

ClinVar Name

NM_000051.4(ATM):c.2159G>A (p.Arg720His)

ClinVar Number

181924

Variant Forum

https://www.facebook.com/groups/341743262904275

Other Names

R720H, p.R720H:CGT>CAT