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