Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM p.Ser160AlafsTer23 (p.S160Afs*23)
(
ENST00000675843.1,
ENST00000278616.10,
ENST00000452508.7,
ENST00000684029.1,
ENST00000713844.1,
ENST00000530958.5,
ENST00000531525.3,
ENST00000601453.3 )
ATM p.Ser214ProfsTer16 (p.S214Pfs*16) ( ENST00000601453.3, ENST00000531525.3, ENST00000713844.1, ENST00000675843.1, ENST00000278616.10, ENST00000452508.7 )
ATM p.Glu343IlefsTer2 (p.E343Ifs*2) ( ENST00000675843.1, ENST00000452508.7, ENST00000278616.10, ENST00000601453.3, ENST00000531525.3, ENST00000713844.1 )
ATM p.Lys468GlufsTer18 (p.K468Efs*18) ( ENST00000713844.1, ENST00000531525.3, ENST00000601453.3, ENST00000452508.7, ENST00000278616.10, ENST00000675843.1 )
ATM p.Gly509GlufsTer3 (p.G509Efs*3) ( ENST00000601453.3, ENST00000713844.1, ENST00000531525.3, ENST00000278616.10, ENST00000452508.7, ENST00000675843.1 )
ATM p.Glu522IlefsTer43 (p.E522Ifs*43) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Cys907Ter (p.C907*) ( ENST00000713844.1, ENST00000531525.3, ENST00000601453.3, ENST00000278616.10, ENST00000452508.7, ENST00000675843.1 )
ATM c.2839-579_2839-576delAAGT ( ENST00000675843.1, ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000713844.1, ENST00000601453.3 )
ATM p.Val1268Ter (p.V1268*) ( ENST00000531525.3, ENST00000713844.1, ENST00000601453.3, ENST00000675843.1, ENST00000278616.10, ENST00000452508.7 )
ATM p.Asp1371IlefsTer15 (p.D1371Ifs*15) ( ENST00000452508.7, ENST00000278616.10, ENST00000675843.1, ENST00000601453.3, ENST00000713844.1, ENST00000531525.3 )
ATM p.Leu1764TyrfsTer12 (p.L1764Yfs*12) ( ENST00000675843.1, ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000713844.1 )
ATM p.Glu2139IlefsTer6 (p.E2139Ifs*6) ( ENST00000675843.1, ENST00000278616.10, ENST00000452508.7, ENST00000525729.5, ENST00000713844.1, ENST00000601453.3 )
ATM p.Leu2427_Arg2428del (p.L2427_R2428del) ( ENST00000713844.1, ENST00000601453.3, ENST00000452508.7, ENST00000278616.10, ENST00000675843.1, ENST00000525729.5 )
ATM p.Ser160AlafsTer23 (p.S160Afs*23) ( ENST00000278616.10, ENST00000452508.7, ENST00000530958.5, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000684029.1, ENST00000713844.1 )
ATM p.Ser214ProfsTer16 (p.S214Pfs*16) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Glu343IlefsTer2 (p.E343Ifs*2) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Lys468GlufsTer18 (p.K468Efs*18) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Gly509GlufsTer3 (p.G509Efs*3) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Glu522IlefsTer43 (p.E522Ifs*43) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Cys907Ter (p.C907*) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM c.2839-579_2839-576delAAGT ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Val1268Ter (p.V1268*) ( ENST00000531525.3, ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Asp1371IlefsTer15 (p.D1371Ifs*15) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Leu1764TyrfsTer12 (p.L1764Yfs*12) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Glu2139IlefsTer6 (p.E2139Ifs*6) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.Leu2427_Arg2428del (p.L2427_R2428del) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.His1082LeufsTer14 (p.H1082Lfs*14) ( ENST00000452508.7, ENST00000278616.10, ENST00000675843.1, ENST00000713844.1, ENST00000531525.3, ENST00000601453.3 )
ATM p.His1082LeufsTer14 (p.H1082Lfs*14) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.? (p.?) ( ENST00000675843.1, ENST00000683914.2, ENST00000683468.1, ENST00000278616.10, ENST00000452508.7, ENST00000684029.1, ENST00000640388.1, ENST00000639953.1, ENST00000682465.1, ENST00000713846.1, ENST00000683150.1, ENST00000531525.3, ENST00000532931.6, ENST00000530958.5, ENST00000713844.1, ENST00000713845.1, ENST00000713847.1, ENST00000526567.5, ENST00000601453.3, ENST00000639240.1 )
ATM p.? (p.?) ( ENST00000713845.1, ENST00000713847.1, ENST00000526567.5, ENST00000601453.3, ENST00000639240.1, ENST00000532931.6, ENST00000530958.5, ENST00000531525.3, ENST00000713846.1, ENST00000683150.1, ENST00000713844.1, ENST00000640388.1, ENST00000684029.1, ENST00000682465.1, ENST00000639953.1, ENST00000675843.1, ENST00000683914.2, ENST00000683468.1, ENST00000278616.10, ENST00000452508.7 )
ATM c.72+1G>A ( ENST00000601453.3, ENST00000278616.10, ENST00000532931.6, ENST00000526567.5, ENST00000452508.7, ENST00000530958.5, ENST00000531525.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1 )
ATM p.Arg35= (p.R35=) ( ENST00000675843.1, ENST00000683914.2, ENST00000683468.1, ENST00000278616.10, ENST00000452508.7, ENST00000684029.1, ENST00000640388.1, ENST00000639953.1, ENST00000682465.1, ENST00000713846.1, ENST00000683150.1, ENST00000531525.3, ENST00000532931.6, ENST00000530958.5, ENST00000713844.1, ENST00000713845.1, ENST00000713847.1, ENST00000526567.5, ENST00000601453.3, ENST00000639240.1 )
ATM p.Arg35Ter (p.R35*) ( ENST00000532931.6, ENST00000452508.7, ENST00000601453.3, ENST00000530958.5, ENST00000278616.10, ENST00000526567.5, ENST00000531525.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1 )
ATM p.Ser47Ter (p.S47*) ( ENST00000639953.1, ENST00000640388.1, ENST00000683914.2, ENST00000601453.3, ENST00000713847.1, ENST00000531525.3, ENST00000713846.1, ENST00000683150.1, ENST00000682465.1, ENST00000684029.1, ENST00000278616.10, ENST00000452508.7, ENST00000675843.1, ENST00000683468.1, ENST00000639240.1, ENST00000713845.1, ENST00000526567.5, ENST00000713844.1, ENST00000532931.6, ENST00000530958.5 )
ATM p.Ser49Cys (p.S49C) ( ENST00000684029.1, ENST00000278616.10, ENST00000452508.7, ENST00000683914.2, ENST00000675843.1, ENST00000526567.5, ENST00000713847.1, ENST00000713844.1, ENST00000713846.1, ENST00000532931.6, ENST00000531525.3, ENST00000639953.1, ENST00000682465.1, ENST00000640388.1, ENST00000683468.1, ENST00000601453.3, ENST00000639240.1, ENST00000713845.1, ENST00000683150.1, ENST00000530958.5 )
ATM p.Ser49Phe (p.S49F) ( ENST00000640388.1, ENST00000684029.1, ENST00000682465.1, ENST00000639953.1, ENST00000675843.1, ENST00000683914.2, ENST00000683468.1, ENST00000452508.7, ENST00000278616.10, ENST00000713847.1, ENST00000526567.5, ENST00000713845.1, ENST00000639240.1, ENST00000601453.3, ENST00000531525.3, ENST00000532931.6, ENST00000530958.5, ENST00000713846.1, ENST00000683150.1, ENST00000713844.1 )
ATM p.Trp57Ter (p.W57*) ( ENST00000531525.3, ENST00000530958.5, ENST00000532931.6, ENST00000683150.1, ENST00000713846.1, ENST00000713844.1, ENST00000713845.1, ENST00000526567.5, ENST00000713847.1, ENST00000601453.3, ENST00000639240.1, ENST00000683468.1, ENST00000683914.2, ENST00000675843.1, ENST00000278616.10, ENST00000452508.7, ENST00000640388.1, ENST00000684029.1, ENST00000682465.1, ENST00000639953.1 )
ATM p.Arg250Ter (p.R250*) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Gln268Ter (p.Q268*) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM c.1066-6T>G ( ENST00000675843.1, ENST00000278616.10, ENST00000601453.3, ENST00000452508.7, ENST00000531525.3, ENST00000713844.1 )
ATM p.Arg447Ter (p.R447*) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Lys750= (p.K750=) ( ENST00000601453.3, ENST00000713844.1, ENST00000531525.3, ENST00000452508.7, ENST00000278616.10, ENST00000675843.1 )
ATM p.Lys750Asn (p.K750N) ( ENST00000601453.3, ENST00000531525.3, ENST00000713844.1, ENST00000675843.1, ENST00000278616.10, ENST00000452508.7 )
ATM c.2251-10T>G ( ENST00000675843.1, ENST00000452508.7, ENST00000278616.10, ENST00000531525.3, ENST00000713844.1, ENST00000601453.3 )
ATM p.Arg805Ter (p.R805*) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM c.2921+1G>A ( ENST00000452508.7, ENST00000278616.10, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM c.2921+1G>C ( ENST00000278616.10, ENST00000452508.7, ENST00000675843.1, ENST00000713844.1, ENST00000531525.3, ENST00000601453.3 )
ATM c.2921+1G>T ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Tyr1124Ter (p.Y1124*) ( ENST00000278616.10, ENST00000452508.7, ENST00000675843.1, ENST00000601453.3, ENST00000713844.1, ENST00000531525.3 )
ATM p.Lys1192= (p.K1192=) ( ENST00000278616.10, ENST00000452508.7, ENST00000675843.1, ENST00000601453.3, ENST00000713844.1, ENST00000531525.3 )
ATM c.3994-2A>G ( ENST00000713844.1, ENST00000531525.3, ENST00000601453.3, ENST00000278616.10, ENST00000452508.7, ENST00000675843.1 )
ATM c.4776+2T>C ( ENST00000531525.3, ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Arg1730Ter (p.R1730*) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Thr1743Ile (p.T1743I) ( ENST00000452508.7, ENST00000278616.10, ENST00000675843.1, ENST00000713844.1, ENST00000601453.3 )
ATM p.Gln1839Ter (p.Q1839*) ( ENST00000713844.1, ENST00000601453.3, ENST00000452508.7, ENST00000278616.10, ENST00000675843.1 )
ATM p.Arg1882Ter (p.R1882*) ( ENST00000713844.1, ENST00000601453.3, ENST00000675843.1, ENST00000278616.10, ENST00000452508.7 )
ATM p.Gln1970Ter (p.Q1970*) ( ENST00000601453.3, ENST00000713844.1, ENST00000525729.5, ENST00000675843.1, ENST00000278616.10, ENST00000452508.7 )
ATM p.Arg2032Lys (p.R2032K) ( ENST00000713844.1, ENST00000601453.3, ENST00000675843.1, ENST00000452508.7, ENST00000278616.10, ENST00000525729.5 )
ATM p.Arg2034= (p.R2034=) ( ENST00000713844.1, ENST00000601453.3, ENST00000675843.1, ENST00000452508.7, ENST00000278616.10, ENST00000525729.5 )
ATM p.Arg2034Ter (p.R2034*) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.Glu2052Lys (p.E2052K) ( ENST00000452508.7, ENST00000278616.10, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5, ENST00000601453.3 )
ATM p.Arg2227Cys (p.R2227C) ( ENST00000278616.10, ENST00000525729.5, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Glu2366Ter (p.E2366*) ( ENST00000713844.1, ENST00000601453.3, ENST00000452508.7, ENST00000278616.10, ENST00000675843.1, ENST00000525729.5 )
ATM p.Val2424Gly (p.V2424G) ( ENST00000278616.10, ENST00000675843.1, ENST00000525729.5, ENST00000452508.7, ENST00000601453.3, ENST00000713844.1 )
ATM p.Arg2443Ter (p.R2443*) ( ENST00000452508.7, ENST00000713844.1, ENST00000601453.3, ENST00000278616.10, ENST00000675843.1, ENST00000525729.5 )
ATM p.? (p.?) ( ENST00000278616.10, ENST00000452508.7, ENST00000526567.5, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1 )
ATM p.? (p.?) ( ENST00000278616.10, ENST00000452508.7, ENST00000526567.5, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1 )
ATM c.72+1G>A ( ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1, ENST00000278616.10, ENST00000452508.7, ENST00000526567.5, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1 )
ATM p.Arg35= (p.R35=) ( ENST00000278616.10, ENST00000452508.7, ENST00000526567.5, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1 )
ATM p.Arg35Ter (p.R35*) ( ENST00000278616.10, ENST00000452508.7, ENST00000526567.5, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1 )
ATM p.Ser47Ter (p.S47*) ( ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1, ENST00000278616.10, ENST00000452508.7, ENST00000526567.5, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1 )
ATM p.Ser49Cys (p.S49C) ( ENST00000278616.10, ENST00000452508.7, ENST00000526567.5, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1 )
ATM p.Ser49Phe (p.S49F) ( ENST00000278616.10, ENST00000452508.7, ENST00000526567.5, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1 )
ATM p.Trp57Ter (p.W57*) ( ENST00000278616.10, ENST00000452508.7, ENST00000526567.5, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1 )
ATM p.Arg250Ter (p.R250*) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Gln268Ter (p.Q268*) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM c.1066-6T>G ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Arg447Ter (p.R447*) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Lys750= (p.K750=) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Lys750Asn (p.K750N) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM c.2251-10T>G ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Arg805Ter (p.R805*) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM c.2921+1G>A ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM c.2921+1G>C ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM c.2921+1G>T ( ENST00000675843.1, ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000713844.1 )
ATM p.Tyr1124Ter (p.Y1124*) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Lys1192= (p.K1192=) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM c.3994-2A>G ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM c.4776+2T>C ( ENST00000675843.1, ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000713844.1 )
ATM p.Arg1730Ter (p.R1730*) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Thr1743Ile (p.T1743I) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Gln1839Ter (p.Q1839*) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Arg1882Ter (p.R1882*) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Gln1970Ter (p.Q1970*) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.Arg2032Lys (p.R2032K) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.Arg2034= (p.R2034=) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.Arg2034Ter (p.R2034*) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.Glu2052Lys (p.E2052K) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.Arg2227Cys (p.R2227C) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.Glu2366Ter (p.E2366*) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.Val2424Gly (p.V2424G) ( ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5, ENST00000278616.10 )
ATM p.Arg2443Ter (p.R2443*) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.Thr1885AsnfsTer19 (p.T1885Nfs*19)
ATM p.Ser1905IlefsTer25 (p.S1905Ifs*25)
ATM p.Ser2017LysfsTer16 (p.S2017Kfs*16)
ATM p.Thr1885AsnfsTer19 (p.T1885Nfs*19)
ATM p.Ser1905IlefsTer25 (p.S1905Ifs*25)
ATM p.Ser2017LysfsTer16 (p.S2017Kfs*16) - Associated Disease
- ataxia telangiectasia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.708689196720956
- Year of publication
- NA
Drugs