Gene: ATM
Coding Change (c.): c.1179_1180del
Protein Change (p.): p.Trp393_Glu394delinsTer
ClinVar Name: NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
ClinVar Number: 231937
Variant Forum: Facebook ATM Group