Gene/transcript (RefSeq)
Variant location
Variant
Chromosome position
Zygosity
Related phenotypes
OMIM number
Inheritance pattern
Variant classification
Reference
ATM NM_000051.3
Exon 26
c.3895delG p.A1299Pfs*50
Chr11:108,155,101
Hom
Ataxia-telangiectasia
208900
AR
Pathogenic
1
Susceptibility to breast cancer 114480 SMu, AD
Lymphoma, B cell non-Hodgkin, somatic - -
Lymphoma, mantle cell, somatic - -
T-cell prolymphocytic leukemia, somatic - -