Gene

ATM

Coding Change (c.)

c.5932G>T

Protein Change (p.)

p.Glu1978Ter

ClinVar Name

NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)

ClinVar Number

127414

Variant Forum

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

Other Names

p.E1978*:GAA>TAA