TP53 Amino Acid Sequence Description | Protein Description | Exon/ Intron | Effect | Transcriptional Activity Class | SNP ID | Clinical Significance |
c.[108G > A] | (p.Pro36Pro) | 4 | silent |
| rs1800370 | benign |
c.[375G > A | (p.Thr125Thr) | 4 | splice |
| rs55863639 | pathogenic |
c.[396G > C] | (p.Lys132Asn) | 5 | missense | non-functional | rs866775781 | likely pathogenic |
c.[404G > A] | (p.Cys135Tyr) | 5 | missense | non-functional | rs587781991 | likely pathogenic |
c.[451C > T] | (p.Pro151Ser) | 5 | missense | non-functional | rs28943874 | likely pathogenic |
c.[524G > A] | (p.Arg175His) | 5 | missense | non-functional | rs28934578 | pathogenic |
c.[527G > T] | (p.Cys176Phe) | 5 | missense | partially functional | rs786202962 | likely pathogenic |
c.[560-1G > A] |
| 5-intron | splice |
|
|
|
c.[584T > C] | (p.Ile195Thr) | 6 | missense | non-functional | rs587781525 | pathogenic |
c.[586C > T] | (p.Arg196X) | 6 | nonsense |
| rs397516435 | pathogenic |
c.[635_636delTT] | (p.Phe212fs) | 6 | frameshift |
|
| pathogenic |
c.[637C > T] | (p.Arg213X) | 6 | nonsense |
| rs397516435 | pathogenic |
c.[638G > A] | (p.Arg213Gln) | 6 | missense | non-functional | rs587778720 | pathogenic |
c.[639A > G] | (p.Arg213Arg) | 6 | silent |
| rs1800372 | benign |
c.[701A > G] | (p.Tyr234Cys) | 7 | missense | non-functional | rs587780073 | likely pathogenic |
c.[733G > A] | (p.Gly245Ser) | 7 | missense | non-functional | rs28934575 | pathogenic |
c.[734G > A] | (p.Gly245Asp) | 7 | missense | non-functional | rs121912656 | pathogenic |
c.[734G > T] | (p.Gly245Val) | 7 | missense | non-functional | rs121912656 | pathogenic |
c.[742C > T] | (p.Arg248Trp) | 7 | missense | non-functional | rs121912651 | pathogenic |
c.[743G > A] | (p.Arg248Gln) | 7 | missense | non-functional | rs11540652 | pathogenic |
c.[811G > T] | (p.Glu271X) | 8 | missense | partially functional | rs1060501191 | uncertain significance |
c.[817C > T] | (p.Arg273Cys) | 8 | missense | non-functional | rs121913343 | conflicting interpretations of pathogenicity |
c.[818G > A] | (p.Arg273His) | 8 | missense | non-functional | rs28934576 | likely pathogenic |
c.[820G > C] | (p.Val274Leu) | 8 | missense | non-functional | rs1057520005 | uncertain significance |
c.[844C > T] | (p.Arg281Trp) | 8 | missense | non-functional | rs28934574 | conflicting interpretations of pathogenicity |
c.[916C > T | (p.Arg306X) | 8 | nonsense |
| rs121913344 | pathogenic |
c.[919 + 13G > A] |
| 8-intron | splice |
|
|
|
c.[993 + 12T > C] |
| 9-intron | splice |
| rs1800899 | benign |