All variants in the ATM gene

Information The variants shown are described using the NM_000051.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
-?/-? 3 c.146C>G r.(?) p.(Ser49Cys) g.108098576C>G - ATM_000001 - Florian Bayersdorfer
?/? 7 c.670A>G r.(?) p.(Lys224Glu) g.108115522A>G - ATM_000003 - Florian Bayersdorfer
+/+ 10 c.1595delinsTA r.(?) p.(Cys532Leufs*34) g.108121787delinsTA - ATM_000011 - Florian Bayersdorfer
+/+ 10 c.1595G>T r.(?) p.(Cys532Phe) g.108121787G>T - ATM_000012 - Florian Bayersdorfer
+/+ 10 c.1595G>T r.(?) p.(Cys532Phe) g.108121787G>T - ATM_000012 - Florian Bayersdorfer
+/+ 10 c.1595_1596insA r.(?) p.(Cys532*) g.108121787_108121788insA - ATM_000013 - Florian Bayersdorfer
?/? 27 c.4060C>A r.(?) p.(Pro1354Thr) g.108158393C>A - ATM_000004 - Florian Bayersdorfer
?/? 30 c.4561G>C r.(?) p.(Val1521Leu) g.108163470G>C - ATM_000005 - Florian Bayersdorfer
?/? 31 c.4768C>T r.(?) p.(Leu1590Phe) g.108164196C>T - ATM_000006 - Florian Bayersdorfer
?/? 34 c.5071A>C r.(?) p.(Ser1691Arg) g.108170506A>C - ATM_000007 - Florian Bayersdorfer
?/? 40 c.5975A>C r.(?) p.(Lys1992Thr) g.108183194A>C - ATM_000008 - Florian Bayersdorfer
?/? 47 c.5975A>C r.(?) p.(Lys1992Thr) g.108183194A>C - ATM_000008 - Florian Bayersdorfer
?/? 47 c.6860G>C r.(?) p.(Gly2287Ala) g.108196837G>C - ATM_000009 - Florian Bayersdorfer
?/? 47 c.6919C>T r.(?) p.(Leu2307Phe) g.108196896C>T - ATM_000010 - Florian Bayersdorfer
?/. 56 c.8240dup r.(?) p.(Arg2748Glufs*9) g.108206660dup - ATM_000002 - Sabine Heber
+?/+? 57-63 c.8269-20_*21del r.? p.? g.108213929_108236256del - ATM_000014 - Florian Bayersdorfer
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