Unique variants in gene ATM

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

237 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.-30-13_-30-12insT r.spl? p.? g.108098309_108098310insT - ATM_000082 - - - - Despoina Kalfakakou
./. 1 - c.51T>C r.(=) p.(=) g.108098402T>C - ATM_000151 - - - - Despoina Kalfakakou
./. 1 - c.115A>G r.(?) p.(Thr39Ala) g.108098545A>G - ATM_000175 - - - - Despoina Kalfakakou
./. 17 - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. 1 - c.184A>G r.(?) p.(Arg62Gly) g.108098614A>G - ATM_000019 - - - - Despoina Kalfakakou
./. 1 - c.185+29_185+32del r.(=) p.(=) g.108098644_108098647del - ATM_000218 - - - - Despoina Kalfakakou
./. 1 - c.309C>T r.(=) p.(=) g.108100028C>T - ATM_000173 - - - - Despoina Kalfakakou
./. 2 - c.320G>A r.(?) p.(Cys107Tyr) g.108100039G>A - ATM_000114 - - - - Despoina Kalfakakou
./. 6 - c.331+48C>T r.(=) p.(=) g.108100098C>T - ATM_000074 rs56324032 - - - Despoina Kalfakakou
./. 1 - c.331+51G>A r.(=) p.(=) g.108100101G>A - ATM_000124 - - - - Despoina Kalfakakou
./. 2 - c.334G>A r.(?) p.(Ala112Thr) g.108106399G>A - ATM_000111 - - - - Despoina Kalfakakou
./. 2 - c.370A>G r.(?) p.(Ile124Val) g.108106435A>G - ATM_000052 - - - - Despoina Kalfakakou
./. 1 - c.473del r.(?) p.(Ile159Tyrfs*7) g.108106538del - ATM_000158 - - - - Despoina Kalfakakou
./. 1 - c.477A>G r.(?) p.(Ile159Met) g.108106542A>G - ATM_000177 - - - - Despoina Kalfakakou
./. 1 - c.496+18T>A r.(=) p.(=) g.108106579T>A - ATM_000164 - - - - Despoina Kalfakakou
./. 1 - c.496+18T>C r.(=) p.(=) g.108106579T>C - ATM_000157 - - - - Despoina Kalfakakou
./. 1 - c.496+37C>T r.(=) p.(=) g.108106598C>T - ATM_000189 - - - - Despoina Kalfakakou
./. 1 - c.497-37A>T r.(=) p.(=) g.108114643A>T - ATM_000188 - - - - Despoina Kalfakakou
./. 3 - c.609C>T r.(=) p.(=) g.108114792C>T - ATM_000090 - - - - Despoina Kalfakakou
./. 1 - c.662G>A r.(?) p.(Arg221Lys) g.108114845G>A - ATM_000212 - - - - Despoina Kalfakakou
./. 1 - c.663-37C>T r.(=) p.(=) g.108115478C>T - ATM_000112 rs4987919 - - - Despoina Kalfakakou
./. 1 - c.749G>A r.(?) p.(Arg250Gln) g.108115601G>A - ATM_000210 rs56123940 - - - Despoina Kalfakakou
+/+, ./. 2 - c.757G>T r.(?) p.(Glu253*) g.108115609G>T - ATM_000120 - Germline ? - Despoina Kalfakakou
./. 1 - c.902-26T>C r.(=) p.(=) g.108117665T>C - ATM_000150 - - - - Despoina Kalfakakou
./. 2 - c.903T>G r.(=) p.(=) g.108117692T>G - ATM_000089 - - - - Despoina Kalfakakou
./. 1 - c.943T>G r.(?) p.(Leu315Val) g.108117732T>G - ATM_000227 - - - - Despoina Kalfakakou
./. 1 - c.978A>G r.(?) p.(Ile326Met) g.108117767A>G - ATM_000088 - - - - Despoina Kalfakakou
./. 3 - c.998C>T r.(?) p.(Ser333Phe) g.108117787C>T - ATM_000113 rs28904919 - - - Despoina Kalfakakou
./. 1 - c.1009C>T r.(?) p.(Arg337Cys) g.108117798C>T - ATM_000230 - - - - Despoina Kalfakakou
./. 3 - c.1010G>A r.(?) p.(Arg337His) g.108117799G>A - ATM_000134 - - - - Despoina Kalfakakou
./. 1 - c.1066-30G>A r.(=) p.(=) g.108119630G>A - ATM_000130 - - - - Despoina Kalfakakou
./. 1 - c.1066-6T>G r.(=) p.(=) g.108119654T>G - ATM_000193 - - - - Despoina Kalfakakou
./. 1 - c.1110C>T r.(=) p.(=) g.108119704C>T - ATM_000204 - - - - Despoina Kalfakakou
./. 4 - c.1215del r.(?) p.(Asn405Lysfs*15) g.108119809del - ATM_000053 - - - - Despoina Kalfakakou
+/+ 1 - c.1215delT r.(?) p.(Asn405Lysfs*15) g.108119809delT - ATM_000237 - Germline ? No Despoina Kalfakakou
./. 5 - c.1229T>C r.(?) p.(Val410Ala) g.108119823T>C - ATM_000020 rs56128736 - - - Despoina Kalfakakou
./. 14 - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. 14 - c.1236-16dup r.spl? p.? g.108121412dup - ATM_000055 - - - - Despoina Kalfakakou
./. 6 - c.1272T>C r.(=) p.(=) g.108121464T>C - ATM_000021 rs35578748 - - - Despoina Kalfakakou
./. 1 - c.1354A>G r.(?) p.(Thr452Ala) g.108121546A>G - ATM_000109 - - - - Despoina Kalfakakou
./. 1 - c.1380G>A r.(=) p.(=) g.108121572G>A - ATM_000056 - - - - Despoina Kalfakakou
./. 4 - c.1444A>C r.(?) p.(Lys482Gln) g.108121636A>C - ATM_000083 - - - - Despoina Kalfakakou
./. 1 - c.1516G>T r.(?) p.(Gly506Cys) g.108121708G>T - ATM_000226 - - - - Despoina Kalfakakou
./. 1 - c.1609C>T r.(?) p.(Pro537Ser) g.108122565C>T - ATM_000057 - - - - Despoina Kalfakakou
./. 2 - c.1654del r.(?) p.(Pro552Glnfs*4) g.108122610del - ATM_000142 - - - - Despoina Kalfakakou
./. 1 - c.1703G>T r.(?) p.(Arg568Ile) g.108122659G>T - ATM_000022 - - - - Despoina Kalfakakou
./. 14 - c.1744T>C r.(?) p.(Phe582Leu) g.108122700T>C - ATM_000023 rs2235006 - - - Despoina Kalfakakou
./. 2 - c.1773T>C r.(=) p.(=) g.108122729T>C - ATM_000058 rs61734356 - - - Despoina Kalfakakou
./. 2 - c.1789C>G r.(?) p.(Pro597Ala) g.108122745C>G - ATM_000059 - - - - Despoina Kalfakakou
./. 1 - c.1790C>T r.(?) p.(Pro597Leu) g.108122746C>T - ATM_000170 - - - - Despoina Kalfakakou
./. 1 - c.1802+29_1802+30del r.(=) p.(=) g.108122787_108122788del - ATM_000162 - - - - Despoina Kalfakakou
./. 18 - c.1810C>T r.(?) p.(Pro604Ser) g.108123551C>T - ATM_000024 rs2227922 - - - Despoina Kalfakakou
./. 1 - c.1887C>T r.(=) p.(=) g.108123628C>T - ATM_000211 - - - - Despoina Kalfakakou
./. 1 - c.1898+45T>C r.(=) p.(=) g.108123684T>C - ATM_000225 - - - - Despoina Kalfakakou
./. 1 - c.1899-36C>T r.(=) p.(=) g.108124505C>T - ATM_000091 - - - - Despoina Kalfakakou
./. 1 - c.1899-10T>G r.(=) p.(=) g.108124531T>G - ATM_000025 - - - - Despoina Kalfakakou
./. 3 - c.1986T>C r.(=) p.(=) g.108124628T>C - ATM_000149 rs1800055 - - - Despoina Kalfakakou
./. 1 - c.2005T>C r.(?) p.(Cys669Arg) g.108124647T>C - ATM_000136 - - - - Despoina Kalfakakou
./. 1 - c.2040C>T r.(=) p.(=) g.108124682C>T - ATM_000039 - - - - Despoina Kalfakakou
./. 1 - c.2124+13del r.(=) p.(=) g.108124779del - ATM_000198 rs35211268 - - - Despoina Kalfakakou
./. 1 - c.2124+35A>G r.(=) p.(=) g.108124801A>G - ATM_000040 - - - - Despoina Kalfakakou
./. 1 - c.2125-25A>T r.(=) p.(=) g.108126917A>T - ATM_000143 - - - - Despoina Kalfakakou
./. 1 - c.2127T>G r.(?) p.(Ile709Met) g.108126944T>G - ATM_000137 rs56252953 - - - Despoina Kalfakakou
./. 1 - c.2149C>T r.(?) p.(Arg717Trp) g.108126966C>T - ATM_000041 - - - - Despoina Kalfakakou
./. 13 - c.2250+22A>C r.(=) p.(=) g.108127089A>C - ATM_000042 rs3218692 - - - Despoina Kalfakakou
./. 12 - c.2250+34A>C r.(=) p.(=) g.108127101A>C - ATM_000043 rs3218705 - - - Despoina Kalfakakou
./. 1 - c.2251-38T>G r.(=) p.(=) g.108128170T>G - ATM_000044 - - - - Despoina Kalfakakou
./. 1 - c.2251-23_2251-22insT r.(=) p.(=) g.108128185_108128186insT - ATM_000026 - - - - Despoina Kalfakakou
./. 1 - c.2251-19T>C r.(=) p.(=) g.108128189T>C - ATM_000144 - - - - Despoina Kalfakakou
./. 2 - c.2284C>G r.(?) p.(Leu762Val) g.108128241C>G - ATM_000145 - - - - Despoina Kalfakakou
./. 6 - c.2289T>A r.(?) p.(Phe763Leu) g.108128246T>A - ATM_000027 rs34231402 - - - Despoina Kalfakakou
./. 2 - c.2376+15del r.(=) p.(=) g.108128348del - ATM_000084 - - - - Despoina Kalfakakou
./. 1 - c.2377-6T>A r.(=) p.(=) g.108129707T>A - ATM_000045 - - - - Despoina Kalfakakou
./. 1 - c.2396C>T r.(?) p.(Ala799Val) g.108129732C>T - ATM_000216 - - - - Despoina Kalfakakou
./. 1 - c.2467-31T>C r.(=) p.(=) g.108137867T>C - ATM_000163 - - - - Despoina Kalfakakou
./. 1 - c.2467-7C>A r.(=) p.(=) g.108137891C>A - ATM_000213 - - - - Despoina Kalfakakou
./. 1 - c.2494C>T r.(?) p.(Arg832Cys) g.108137925C>T - ATM_000110 - - - - Despoina Kalfakakou
./. 1 - c.2553T>G r.(?) p.(Asp851Glu) g.108137984T>G - ATM_000185 - - - - Despoina Kalfakakou
./. 2 - c.2706G>A r.(=) p.(=) g.108139204G>A - ATM_000131 - - - - Despoina Kalfakakou
./. 8 - c.2838+28_2838+29insA r.(=) p.(=) g.108139364_108139365insA - ATM_000046 rs2234995 - - - Despoina Kalfakakou
./. 1 - c.2921+15C>T r.(=) p.(=) g.108141888C>T - ATM_000129 - - - - Despoina Kalfakakou
./. 2 - c.2921+38G>C r.(=) p.(=) g.108141911G>C - ATM_000047 - - - - Despoina Kalfakakou
./. 5 - c.2932T>C r.(?) p.(Ser978Pro) g.108141988T>C - ATM_000028 - - - - Despoina Kalfakakou
./. 1 - c.2947G>A r.(?) p.(Asp983Asn) g.108142003G>A - ATM_000205 - - - - Despoina Kalfakakou
./. 1 - c.2950C>G r.(?) p.(Gln984Glu) g.108142006C>G - ATM_000048 - - - - Despoina Kalfakakou
./. 1 - c.3077+8C>G r.(=) p.(=) g.108142141C>G - ATM_000195 - - - - Despoina Kalfakakou
./. 1 - c.3077+41A>G r.(=) p.(=) g.108142174A>G - ATM_000171 - - - - Despoina Kalfakakou
./. 1 - c.3108C>T r.(=) p.(=) g.108143289C>T - ATM_000029 - - - - Despoina Kalfakakou
./. 2 - c.3150T>C r.(=) p.(=) g.108143331T>C - ATM_000217 rs3092859 - - - Despoina Kalfakakou
./. 2 - c.3154-4G>A r.spl? p.? g.108143445G>A - ATM_000139 - - - - Despoina Kalfakakou
./. 1 - c.3194G>A r.(?) p.(Gly1065Glu) g.108143489G>A - ATM_000199 - - - - Despoina Kalfakakou
./. 3 - c.3285-50T>C r.(=) p.(=) g.108150168T>C - ATM_000049 - - - - Despoina Kalfakakou
./. 1 - c.3331C>G r.(?) p.(Leu1111Val) g.108150264C>G - ATM_000050 - - - - Despoina Kalfakakou
./. 1 - c.3342G>A r.(=) p.(=) g.108150275G>A - ATM_000209 - - - - Despoina Kalfakakou
./. 3 - c.3371A>T r.(?) p.(Tyr1124Phe) g.108150304A>T - ATM_000030 - - - - Despoina Kalfakakou
./. 2 - c.3378A>G r.(=) p.(=) g.108150311A>G - ATM_000031 - - - - Despoina Kalfakakou
./. 11 - c.3402+17T>C r.(=) p.(=) g.108150352T>C - ATM_000051 rs3092825 - - - Despoina Kalfakakou
./. 12 - c.3402+30_3402+32del r.(=) p.(=) g.108150365_108150367del - ATM_000032 - - - - Despoina Kalfakakou
./. 1 - c.3402+39T>C r.(=) p.(=) g.108150374T>C - ATM_000060 - - - - Despoina Kalfakakou
./. 1 - c.3403-16_3403-15insA r.(=) p.(=) g.108151706_108151707insA - ATM_000128 - - - - Despoina Kalfakakou
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