Unique variants in the TP53 gene

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

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
+/+ 1 10 deletion exon 10 r.? p.? Hetero no - g.? - TP53_000027 - - Silvina Sisterna-Hospital de Comunidad
?/? 1 2 c.47A>G r.(47a>g) p.(Gln16Arg) Hetero no - g.7676548T>C - TP53_000024 - - Maria Laura Gonzalez-Hospital Italiano
-/-, -/-? 2 4 c.108G>A r.(=) p.(=) Hetero no, MLH1 RECLASSIFIED NOVEMBER 2020 g.7676261C>T - TP53_000007 - - Lina Nuñez-Private Practice, Gonzalo Tabares-CEMA
-/-, ./- 48 4 c.215C>G r.(?) p.(Pro72Arg) Hetero, Homo, Not specified no, ATM, BRCA2, BRCA1 - g.7676154G>C - TP53_000001 - - Gonzalo Tabares-CEMA, Silvina Sisterna-Hospital de Comunidad, Lina Nuñez-Hospital Alemán, Pablo Kalfayan-Hospital Italiano, Florencia Petracchi-CEMIC, Pablo Kalfayan-CEMIC, Lina Nuñez-Private Practice, Erika Stegmayer-Inst. Nuestra Señora de las Mercedes, Erika Stegmayer-CIOC, Laura Vargas Roig-IMBECU, Dolores Mansilla-Instituto Roffo, Claudia Martin-Hospital de Córdoba
+/+ 1 4 c.216_219dup r.(216_219dup) p.(Ala74Argfs*76) Hetero LZTR1 - g.7676150_7676153dup - TP53_000023 - - Norma Rossi - Fundacion Para el Progreso de la Medicina
?/-? 1 4 c.245C>T r.(?) p.(Pro82Leu) Hetero no - g.7676124G>A - TP53_000016 - - Jesica Ramirez-Hospital Central de Mendoza
+/+ 1 4 c.365_366del r.(?) p.(Val122Aspfs*26) Hetero N/A - g.7676003_7676004del - TP53_000021 - - Claudia Martin-Hospital de Córdoba
?/- 2 4i c.376-91G>A r.(=) p.(=) Homo no - g.7675327C>T - TP53_000002 - - Florencia Petracchi-CEMIC, Pablo Kalfayan-CEMIC
+/+ 1 5 c.422G>A r.(?) p.(Cys141Tyr) Hetero N/A - g.7675190C>T - TP53_000018 - - Silvina Sisterna-Hospital de Comunidad
+?/+? 1 5 c.428T>C r.(?) p.(Val143Ala) Hetero no - g.7675184A>G - TP53_000014 - - Laura Vargas Roig-IMBECU
?/? 1 6 c.572C>G r.(572c>g) p.Pro191Arg Hetero no - g.7674959G>C - TP53_000026 rs587778718 - Erika Stegmayer-CIOC
?/+? 1 6 c.587G>A r.(?) p.(Arg196Gln) Hetero no RECLASSIFIED JULY 2022 g.7674944C>T - TP53_000004 - - Vanesa Lotersztein-Genesia/Progenitest
-/-, ./- 5 6 c.639A>G r.(=) p.(=) Hetero no - g.7674892T>C - TP53_000009 - - Silvina Sisterna-Hospital de Comunidad, Laura Vargas Roig-IMBECU, Lina Nuñez-Hospital Alemán
+/+ 1 6 c.652delG r.(?) p.(Val218Cysfs*29) Hetero PALB2 - g.7674879delC - TP53_000019 - - Alejandra Mampel-COIR
-/-? 1 6 c.666G>A r.(=) p.(=) Hetero no - g.7674865C>T - TP53_000015 - - Silvina Sisterna-Hospital de Comunidad
-/- 2 6i c.672+62A>G r.(=) p.(=) Homo no - g.7674797T>C - TP53_000003 - - Florencia Petracchi-CEMIC, Pablo Kalfayan-CEMIC
+/+ 1 7 c.742C>T r.(?) p.(Arg248Trp) Hetero N/A - g.7674221G>A - TP53_000020 - - Cecilia Montes-IMGO
+/+ 1 7 c.743G>A r.(?) p.(Arg248Gln) Hetero N/A - g.7674220C>T - TP53_000005 - - Claudia Martin-Hospital de Córdoba
?/? 1 7 c.776A>G r.(?) p.(Asp259Gly) Hetero no - g.7674187T>C - TP53_000011 - - Lina Nuñez-Private Practice
+?/+? 1 8 c.799C>T r.(?) p.(Arg267Trp) Hetero no - g.7673821G>A - TP53_000013 - - Lina Nuñez-Private Practice
+/+ 2 8 c.814G>A r.(814g>a) p.(Val272Met) Hetero N/A - g.7673806C>T - TP53_000025 - possibly mosaic Pablo Kalfayan-Hospital Italiano
+/+ 2 8 c.863del r.(863del) p.(Asn288Ilefs*57) Hetero CDKN2A, N/A - g.7673758del - TP53_000022 - - Cecilia Montes-IMGO
+/+ 1 8 c.912dup r.(?) p.(Lys305*) Hetero N/A RECLASSIFIED NOVEMBER 2020 g.7673708dup - TP53_000008 - - Norma Rossi-Hospital de Córdoba
?/- 1 9i c.993+352C>T r.(=) p.(=) Hetero no RECLASSIFIED JULY 2022 g.7673183G>A - TP53_000010 - - Pablo Kalfayan-CEMIC
+?/+? 1 10 c.1010G>C r.(?) p.(Arg337Pro) Hetero N/A - g.7670699C>G - TP53_000012 - - Jesica Ramirez-Hospital Central de Mendoza
?/-? 2 10 c.1066G>C r.(?), r.(1066g>c) p.(Gly356Arg) Hetero no - g.7670643C>G - TP53_000017 - - Silvina Sisterna-Hospital de Comunidad, Lina Nuñez-Hospital Alemán
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