Unique variants in gene TP53

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

35 entries on 1 page. Showing entries 1 - 35.
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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     
./. 2 - c.-11G>A r.(=) p.(=) g.7579923C>T - TP53_000007 - - - - Despoina Kalfakakou
./. 1 - c.18A>C r.(=) p.(=) g.7579895T>G - TP53_000015 - - - - Despoina Kalfakakou
./. 1 - c.28G>C r.(?) p.(Val10Leu) g.7579885C>G - TP53_000032 - - - - Despoina Kalfakakou
./. 2 - c.35C>T r.(?) p.(Pro12Leu) g.7579878G>A - TP53_000006 - - - - Despoina Kalfakakou
./. 3 - c.74+14T>C r.(=) p.(=) g.7579825A>G - TP53_000004 - - - - Despoina Kalfakakou
./. 13 - c.97-52G>A r.(=) p.(=) g.7579642C>T - TP53_000011 - - - - Despoina Kalfakakou
./. 1 - c.97-36C>T r.(=) p.(=) g.7579626G>A - TP53_000016 - - - - Despoina Kalfakakou
./. 7 - c.97-9C>T r.(=) p.(=) g.7579599G>A - TP53_000003 - - - - Despoina Kalfakakou
./. 1 - c.270C>T r.(=) p.(=) g.7579417G>A - TP53_000035 - - - - Despoina Kalfakakou
./. 1 - c.459C>T r.(=) p.(=) g.7578471G>A - TP53_000005 rs72661116 - - - Despoina Kalfakakou
./. 1 - c.472C>T r.(?) p.(Arg158Cys) g.7578458G>A - TP53_000023 - - - - Despoina Kalfakakou
./. 1 - c.509C>T r.(?) p.(Thr170Met) g.7578421G>A - TP53_000020 - - - - Despoina Kalfakakou
./. 1 - c.510G>A r.(=) p.(=) g.7578420C>T - TP53_000026 - - - - Despoina Kalfakakou
./. 1 - c.559+24C>T r.(=) p.(=) g.7578347G>A - TP53_000009 rs56181208 - - - Despoina Kalfakakou
./. 1 - c.560G>T r.(?) p.(Gly187Val) g.7578289C>A - TP53_000010 - - - - Despoina Kalfakakou
./. 1 - c.651G>T r.(=) p.(=) g.7578198C>A - TP53_000025 - - - - Despoina Kalfakakou
./. 1 - c.658T>C r.(?) p.(Tyr220His) g.7578191A>G - TP53_000022 - - - - Despoina Kalfakakou
./. 1 - c.672+18G>C r.(=) p.(=) g.7578159C>G - TP53_000033 - - - - Despoina Kalfakakou
./. 25 - c.672+31A>G r.(=) p.(=) g.7578146T>C - TP53_000002 rs34949160 - - - Despoina Kalfakakou
./. 2 - c.672+35G>T r.(=) p.(=) g.7578142C>A - TP53_000029 - - - - Despoina Kalfakakou
./. 1 - c.672+48G>A r.(=) p.(=) g.7578129C>T - TP53_000028 rs17884607 - - - Despoina Kalfakakou
./. 1 - c.672+48G>T r.(=) p.(=) g.7578129C>A - TP53_000018 rs17884607 - - - Despoina Kalfakakou
./. 1 - c.722C>A r.(?) p.(Ser241Tyr) g.7577559G>T - TP53_000021 rs28934573 - - - Despoina Kalfakakou
./. 1 - c.782+12C>T r.(=) p.(=) g.7577487G>A - TP53_000019 rs17881780 - - - Despoina Kalfakakou
./. 1 - c.782+17C>T r.(=) p.(=) g.7577482G>A - TP53_000030 rs17880172 - - - Despoina Kalfakakou
./. 1 - c.794T>G r.(?) p.(Leu265Arg) g.7577144A>C - TP53_000031 - - - - Despoina Kalfakakou
./. 7 - c.847C>T r.(?) p.(Arg283Cys) g.7577091G>A - TP53_000001 - - - - Despoina Kalfakakou
./. 1 - c.871A>C r.(?) p.(Lys291Gln) g.7577067T>G - TP53_000027 - - - - Despoina Kalfakakou
./. 3 - c.919+30_919+31insGG r.(=) p.(=) g.7576988_7576989insCC - TP53_000014 - - - - Despoina Kalfakakou
./. 1 - c.921A>G r.(=) p.(=) g.7576925T>C - TP53_000034 - - - - Despoina Kalfakakou
./. 1 - c.994-41C>T r.(=) p.(=) g.7574074G>A - TP53_000017 - - - - Despoina Kalfakakou
./. 6 - c.1014C>T r.(=) p.(=) g.7574013G>A - TP53_000013 - - - - Despoina Kalfakakou
./. 2 - c.1079G>T r.(?) p.(Gly360Val) g.7573948C>A - TP53_000008 rs35993958 - - - Despoina Kalfakakou
./. 1 - c.1100+35C>G r.(=) p.(=) g.7573892G>C - TP53_000012 - - - - Despoina Kalfakakou
./. 1 - c.*21C>T r.(=) p.(=) g.7572906G>A - TP53_000024 - - - - Despoina Kalfakakou
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