View all transcript variants in gene TP53

Information The variants shown are described using the NM_000546.5 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     
-/-? 4 c.108G>A r.(=) p.(=) Hetero MLH1 - g.7676261C>T - TP53_000007 Gonzalo Tabares-CEMA
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - g.7676154G>C - TP53_000001 Lina Nuñez-Private Practice
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - g.7676154G>C - TP53_000001 Florencia Petracchi-CEMIC
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - g.7676154G>C - TP53_000001 Gonzalo Tabares-CEMA
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - g.7676154G>C - TP53_000001 Pablo Kalfayan-CEMIC
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - g.7676154G>C - TP53_000001 Pablo Kalfayan-Hospital Italiano
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - g.7676154G>C - TP53_000001 Lina Nuñez-Private Practice
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo BRCA1 - g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - g.7676154G>C - TP53_000001 Dolores Mansilla-Instituto Roffo
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo BRCA2 - g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero BRCA2 - g.7676154G>C - TP53_000001 Claudia Martin-Hospital Privado Centro Médico de Córdoba
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - g.7676154G>C - TP53_000001 Pablo Kalfayan-Hospital Italiano
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - g.7676154G>C - TP53_000001 Pablo Kalfayan-Hospital Italiano
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - g.7676154G>C - TP53_000001 Lina Nuñez-Private Practice
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado
?/- 4i c.376-91G>A r.(=) p.(=) Homo no - g.7675327C>T - TP53_000002 Florencia Petracchi-CEMIC
?/- 4i c.376-91G>A r.(=) p.(=) Homo no - g.7675327C>T - TP53_000002 Pablo Kalfayan-CEMIC
?/? 6 c.587G>A r.(?) p.(Arg196Gln) Hetero no - g.7674944C>T - TP53_000004 Vanesa Lotersztein-Consultorio AGO Progenitest
-/- 6 c.639A>G r.(=) p.(=) Hetero no - g.7674892T>C - TP53_000009 Laura Vargas Roig-IMBECU
-/- 6i c.672+62A>G r.(=) p.(=) Homo no - g.7674797T>C - TP53_000003 Florencia Petracchi-CEMIC
-/- 6i c.672+62A>G r.(=) p.(=) Homo no - g.7674797T>C - TP53_000003 Pablo Kalfayan-CEMIC
+/+ 7 c.743G>A r.(?) p.(Arg248Gln) Hetero N/A - g.7674220C>T - TP53_000005 Claudia Martin-Hospital Privado Centro Médico de Córdoba
?/? 7 c.776A>G r.(?) p.(Asp259Gly) Hetero no - g.7674187T>C - TP53_000011 Lina Nuñez-Private Practice
+/+? 8 c.912dup r.(?) p.(Lys305*) Hetero N/A - g.7673708dup Reclassified June 2019 TP53_000008 Claudia Martin-Hospital Privado Centro Médico de Córdoba
?/-? 9i c.993+352C>T r.(=) p.(=) Hetero no - g.7673183G>A Reclassified June 2019 TP53_000010 Pablo Kalfayan-CEMIC
+?/+? 10 c.1010G>C r.(?) p.(Arg337Pro) Hetero N/A - g.7670699C>G - TP53_000012 Jesica Ramirez-Hospital Central de Mendoza
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