Gene

ATM

Coding Change (c.)

c.9022C>T

Protein Change (p.)

p.Arg3008Cys

ClinVar Name

NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)

ClinVar Number

142187

Variant Forum

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

Other Names

R3008C, p.R3008C:CGT>TGT