Gene: ATM
Coding Change (c.): c.5290del
Protein Change (p.): p.Leu1764fs
ClinVar Name: NM_000051.4(ATM):c.5290del (p.Leu1764fs)
ClinVar Number: 127405
Variant Forum: https://messageboard.facingourrisk.org/t/atm-c-5290del/9016