All variants in the TP53 gene

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

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 3 c.91G>A r.(?) p.(Val31Ile) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 91/7051 cases breast cancer - 0 - Yukihide Momozawa
-/. 3 c.91G>A r.(?) p.(Val31Ile) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 138/11241 controls - 0 - Yukihide Momozawa
-/. - c.91G>A r.(?) p.(Val31Ile) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 3/7051 cases breast cancer - 0 - Yukihide Momozawa
-/. - c.91G>A r.(?) p.(Val31Ile) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 1/11241 controls - 0 - Yukihide Momozawa
-/. - c.91G>A r.(?) p.(Val31Ile) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 1/12490 controls - 0 - Yukihide Momozawa
-/. - c.91G>A r.(?) p.(Val31Ile) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 146/12490 controls - 0 - Yukihide Momozawa
?/. - c.91G>A r.(?) p.(Val31Ile) - NA g.7579705C>T - chr17_7579705_C_T - TP53_010118 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 55/60466 cases - 0 - BRIDGES consortium
?/. - c.91G>A r.(?) p.(Val31Ile) - NA g.7579705C>T - chr17_7579705_C_T - TP53_010118 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 41/53461 controls - 0 - BRIDGES consortium
+/. - c.91G>A r.(?) p.(Val31Ile) - VUS g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Jiang 2022 - - Germline/De novo (untested) - >1/309 cases - 0 - Johan den Dunnen
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