Unique variants in the TP53 gene

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

60 entries on 1 page. Showing entries 1 - 60.
Legend   How to query  

Effect     
Reported     
Exon     
AscendingDNA change (cDNA)     
Published as     
RNA change     
Protein     
GVS function     
Clinical classification     
DNA change (genomic) (hg38)     
Published as     
Reference     
DB-ID     
dbSNP ID     
Frequency     
Variant remarks     
Owner     
./. 1 2i c.74+14T>C - r.(=) p.(=) - ClinVar g.7676507A>G - Daphne S C Lee et al. (2012)dbSNP TP53_000054 rs184743157 1/4 - Nuur Athirah Binti Mohd Daud
-?/. 1 3i c.97-28T>A - r.(=) p.(=) - ClinVar g.7676300A>T - Daphne S C Lee et al. (2012), dbSNP , ClinVar TP53_000055 rs200989844 1/4 - Nuur Athirah Binti Mohd Daud
+/. 1 4 c.337_339del - r.(?) p.(Phe113del) - - g.7676030_7676032del F113del Sharifah Nurain Syed Zanaruddin et al. (2013) TP53_000001 rs587777801 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 4 c.370T>C - r.(?) p.(Cys124Arg) - - g.7675999A>G C124R Sharifah Nurain Syed Zanaruddin et al. (2013) TP53_000002 rs121909223 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.380C>T - r.(?) p.(Ser127Phe) missense Likely pathogenic g.7675232G>A S127F, S88F dbSNP, ClinVar TP53_000057 rs730881999 1/10 - Nuur Athirah Binti Mohd Daud
./. 1 5 c.413C>T - r.(?) p.(Ala138Val) - ClinVar g.7675199G>A p. A138V Daphne S C Lee et al. (2012), dbSNP, ClinVar TP53_000053 rs750600586 1/4 - Nuur Athirah Binti Mohd Daud
?/. 1 5 c.454C>T - r.(?) p.(Pro152Ser) - ClinVar g.7675158G>A P152S Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000003 rs767328513 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 5 c.455del - r.(?) p.(Pro152Argfs*18) - ClinVar g.7675157del c.455delC Xiaohong R Yang et al. (2013)dbSNP TP53_000028 rs730882019 1/2 - Nuur Athirah Binti Mohd Daud
+/. 1 5 c.470T>G - r.(?) p.(Val157Gly) - - g.7675142A>C V157G Sharifah Nurain Syed Zanaruddin et al. (2013) TP53_000004 - 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.472C>T - r.(?) p.(Arg158Cys) missense Likely pathogenic g.7675140G>A - dbSNP, ClinVar TP53_000059 rs587780068 1/10 - Nuur Athirah Binti Mohd Daud
+/. 1 5 c.488A>G - r.(?) p.(Tyr163Cys) - ClinVar g.7675124T>C 7578442T>C / Y163C Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar TP53_000032 rs148924904 1/10 - Nuur Athirah Binti Mohd Daud
+/. 2 5 c.524G>A - r.(?) p.(Arg175His) - ClinVar g.7675088C>T 7578406C > T, R175H Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, (OMIM 0030), ClinVar, 1 more item TP53_000005 rs28934578 2/10, 2/31 - Nuur Athirah Binti Mohd Daud
+?/. 1 5 c.527G>T - r.(?) p.(Cys176Phe) - ClinVar g.7675085C>A C176F Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000006 rs786202962 1/31 - Nuur Athirah Binti Mohd Daud
./. 1 5 c.536A>G - r.(?) p.(His179Arg) - ClinVar g.7675076T>C H179R Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000007 rs1057519991 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 5 c.548C>G - r.(?) p.(Ser183*) - ClinVar g.7675064G>C S183* Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000008 rs1555525970 1/31 - Nuur Athirah Binti Mohd Daud
./. 1 6 c.578A>G - r.(?) p.(His193Arg) - ClinVar g.7674953T>C 7578271T > C / H193R Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar TP53_000029 rs786201838 1/10 - Nuur Athirah Binti Mohd Daud
+/. 3 6 c.586C>T - r.(?) p.(Arg196*) - Pathogenic, ClinVar g.7674945G>A R196*, R64X, R37X, R196X, R157X dbSNP, ClinVar, A A Yusoff et al. (2004), dbSNP, ClinVar, A Jafri et al. (2003), dbSNP, ClinVar TP53_000042 rs397516435 1/10, 1/33, 1/47 - Nuur Athirah Binti Mohd Daud
?/. 2 6 c.589G>T - r.(?) p.(Val197Leu) - ClinVar g.7674942C>A V197L A A Yusoff et al. (2004)dbSNP, A Jafri et al. (2003), dbSNP, ClinVar TP53_000039 rs786204041 1/33, 1/47 - Nuur Athirah Binti Mohd Daud
+/. 1 6 c.590_591delinsCC - r.(?) p.(Val197Ala) - - g.7674940_7674941delinsGG V197A A A Yusoff et al. (2004) TP53_000036 - 1/47 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.596G>T - r.(?) p.(Gly199Val) - rs1555525857 g.7674935C>A G199V dbSNP, ClinVar TP53_000047 rs1555525857 1/2 - Nuur Athirah Binti Mohd Daud
+?/. 1 6 c.614A>G - r.(?) p.(Tyr205Cys) - ClinVar g.7674917T>C Y205C Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000009 rs1057520007 1/31 - Nuur Athirah Binti Mohd Daud
./. 1 6 c.638G>C - r.(?) p.(Arg213Pro) - ClinVar g.7674893C>G R213P A A Yusoff et al. (2004), dbSNP, ClinVar TP53_000043 rs587778720 1/47 - Nuur Athirah Binti Mohd Daud
+/. 1 6 c.659A>G - r.(?) p.(Tyr220Cys) - ClinVar g.7674872T>C 7578190T > C / Y220C Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar TP53_000030 rs121912666 2/10 - Nuur Athirah Binti Mohd Daud
+/. 1 6i c.672+18G>C - r.(=) p.(=) - ClinVar g.7674841C>G - Daphne S C Lee et al. (2012), dbSNP,{ClinVar:ClinVar} TP53_000051 rs199578278 1/3 - Nuur Athirah Binti Mohd Daud
+/. 2 7 c.683A>C - r.(?) p.(Asp228Ala) - - g.7674280T>G D228A A A Yusoff et al. (2004), A Jafri et al. (2003) TP53_000046 rs879254642 1/33, 1/47 - Nuur Athirah Binti Mohd Daud
+/. 2 7 c.693C>G - r.(=) p.(=) - - g.7674270G>C T231T A A Yusoff et al. (2004), A Jafri et al. (2003) TP53_000040 rs1570499154 1/33, 1/47 - Nuur Athirah Binti Mohd Daud
+/. 1 7 c.700T>C - r.(?) p.(Tyr234His) - ClinVar g.7674263A>G 7577581A>G / Y234H Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar TP53_000034 rs864622237 1/10 - Nuur Athirah Binti Mohd Daud
./. 1 7 c.701A>G - r.(?) p.(Tyr234Cys) - ClinVar g.7674262T>C Y234C Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000010 rs587780073 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 7 c.702C>G - r.(?) p.(Tyr234*) - - g.7674261G>C Y234* Sharifah Nurain Syed Zanaruddin et al. (2013) TP53_000011 - 1/31 - Nuur Athirah Binti Mohd Daud
+?/. 1 7 c.710T>A - r.(?) p.(Met237Lys) - ClinVar g.7674253A>T M237K Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000013 rs765848205 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 7 c.711G>A - r.(?) p.(Met237Ile) - ClinVar g.7674252C>T M237I Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000012 rs587782664 1/31 - Nuur Athirah Binti Mohd Daud
./. 1 7 c.731G>A - r.(?) p.(Gly244Asp) - ClinVar g.7674232C>T G244D Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000014 rs985033810 1/31 - Nuur Athirah Binti Mohd Daud
+?/. 2 7 c.737T>A - r.(?) p.(Met246Lys) - ClinVar g.7674226A>T M246K A A Yusoff et al. (2004)dbSNP, A Jafri et al. (2003), dbSNP, ClinVar TP53_000035 rs587780074 1/33, 1/47 - Nuur Athirah Binti Mohd Daud
+/. 2 7 c.742C>T - r.(?) p.(Arg248Trp) - ClinVar g.7674221G>A R248W, R254 W Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, (OMIM 0001), ClinVar, 1 more item TP53_000016 rs121912651 1/2, 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 7 c.743G>A - r.(?) p.(Arg248Gln) - ClinVar g.7674220C>T R248Q Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000015 rs11540652 2/31 - Nuur Athirah Binti Mohd Daud
?/. 2 7 c.746G>A - r.(?) p.(Arg249Lys) - ClinVar g.7674217C>T R249K A A Yusoff et al. (2004), dbSNP, ClinVar, A Jafri et al. (2003), dbSNP, ClinVar TP53_000041 rs587782329 1/47, 2/33 - Nuur Athirah Binti Mohd Daud
+?/. 1 - c.775G>T - r.(?) p.(Asp259Tyr) - ClinVar g.7674188C>A D259Y dbSNP, dbSNP, ClinVar TP53_000048 rs1567548929 1 - Nuur Athirah Binti Mohd Daud
+/. 1 8 c.793C>T - r.(=) p.(=) - - g.7673827G>A - A Jafri et al. (2003) TP53_000056 rs879253921 1/33 - Nuur Athirah Binti Mohd Daud
+/. 2 8 c.794T>G - r.(?) p.(Leu265Arg) - - g.7673826A>C L265R A A Yusoff et al. (2004), A Jafri et al. (2003) TP53_000038 rs104895316 1/33, 1/47 - Nuur Athirah Binti Mohd Daud
+/. 2 8 c.798A>C - r.(=) p.(=) - - g.7673822T>G G266G A A Yusoff et al. (2004), A Jafri et al. (2003) TP53_000037 rs1581616753, rs756044708 1/33, 1/47 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.800G>A - r.(?) p.(Arg267Gln) missense Uncertain significance​ g.7673820C>T R135Q, G323A, R108Q, R267Q, R228Q dbSNP, ClinVar TP53_000058 rs587780075 1/10 - Nuur Athirah Binti Mohd Daud
./. 1 8 c.809T>C - r.(?) p.(Phe270Ser) - ClinVar g.7673811A>G F270S A A Yusoff et al. (2004), dbSNP, ClinVar TP53_000044 rs1057519986 1/47 - Nuur Athirah Binti Mohd Daud
+/., ./. 2 8 c.817C>T - r.(?) p.(Arg273Cys) missense Pathogenic/Likely pathogenic, ClinVar g.7673803G>A R273C dbSNP, ClinVar, Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000017 rs121913343 1/10, 3/31 - Nuur Athirah Binti Mohd Daud
+/. 1 8 c.817_820del - r.(?) p.(Arg273Phefs*71) - - g.7673800_7673803del CTGG, 4 bp-deletion A A Yusoff et al. (2004) TP53_000045 rs1564752665 1/47 - Nuur Athirah Binti Mohd Daud
+/. 1 8 c.831_857del - r.(?) p.(Cys277*) - - g.7673763_7673789del 831_857del24 Sharifah Nurain Syed Zanaruddin et al. (2013) TP53_000018 - 1/31 - Nuur Athirah Binti Mohd Daud
./. 1 8 c.832C>T - r.(?) p.(Pro278Ser) - ClinVar g.7673788G>A P278S Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000019 rs17849781 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 8 c.844C>G - r.(?) p.(Arg282Gly) - ClinVar g.7673776G>C 7577094G>C / R282G Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar TP53_000033 rs28934574 1/10 - Nuur Athirah Binti Mohd Daud
+/., ./. 2 8 c.844C>T - r.(?) p.(Arg282Trp) - ClinVar g.7673776G>A R282W dbSNP, (OMIM 0018), ClinVar, 1 more item TP53_000020 rs28934574 1/2, 1/31 - Nuur Athirah Binti Mohd Daud
./. 1 8 c.853G>A - r.(?) p.(Glu285Lys) - ClinVar g.7673767C>T p. E285K Daphne S C Lee et al. (2012), dbSNP, ClinVar TP53_000052 rs112431538 1/4 - Nuur Athirah Binti Mohd Daud
+/. 1 8 c.856G>A - r.(?) p.(Glu286Lys) - ClinVar g.7673764C>T E286K Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000021 rs786201059 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 8 c.876del - r.(?) p.(Glu294Serfs*51) - - g.7673744del 876delA Sharifah Nurain Syed Zanaruddin et al. (2013) TP53_000022 rs1557136332 1/31 - Nuur Athirah Binti Mohd Daud
./. 1 8 c.903A>G - r.(=) p.(=) - ClinVar g.7673717T>C 7577035T>C Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar TP53_000031 rs72661120 2/10 - Nuur Athirah Binti Mohd Daud
+/. 2 8 c.916C>T - r.(?) p.(Arg306*) - Pathogenic, ClinVar g.7673704G>A R174X, R147X, R306X, R267X, R306* dbSNP, ClinVar, Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000023 rs121913344 1/10, 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 9 c.960del - r.(?) p.(Lys321Asnfs*24) - - g.7673568del 960delG Sharifah Nurain Syed Zanaruddin et al. (2013) TP53_000024 rs1555524370 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 10 c.1001_1006dup - r.(?) p.(Gly334_Arg335dup) - - g.7670703_7670708dup G334_R335dup Daphne S C Lee et al. (2012) TP53_000050 - 1/3 - Nuur Athirah Binti Mohd Daud
+/. 1 10 c.1006G>T - r.(?) p.(Glu336*) - - g.7670703C>A E336* Sharifah Nurain Syed Zanaruddin et al. (2013) TP53_000025 rs1553769428 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 10 c.1013_1014insT - r.(?) p.(Glu339Argfs*8) - - g.7670695_7670696insA F338fs*8 Sharifah Nurain Syed Zanaruddin et al. (2013), TP53_000026 - 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 10 c.1024C>T - r.(?) p.(Arg342*) - ClinVar g.7670685G>A R342* Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar TP53_000027 rs730882029 1/31 - Nuur Athirah Binti Mohd Daud
+/. 1 10 c.1036G>T - r.(?) p.(Glu346*) - ClinVar g.7670673C>A E346X Daphne S C Lee et al. (2012), dbSNP, ClinVar TP53_000049 rs1567542019 1/3 - Nuur Athirah Binti Mohd Daud
+/. 1 4 c.*7657470C>G - r.(=) p.(=) - - g.12139G>C - A R Ghani et al.(2008) TP53_000060 - - - Nur Aisyah Athirah
Legend   How to query  

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		Checking for LOVD updates...