All variants in the TP53 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
?/. 4 c.214C>G r.(?) p.(Pro72Ala) - VUS g.7579473G>C g.7676155G>C - - TP53_010112 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587782769 Germline - 2/7051 cases breast cancer - 0 - Yukihide Momozawa
?/. - c.214C>G r.(?) p.(Pro72Ala) - VUS g.7579473G>C g.7676155G>C - - TP53_010112 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587782769 Germline - 3/12490 controls - 0 - Yukihide Momozawa
?/. - c.214C>G r.(?) p.(Pro72Ala) - NA g.7579473G>C - chr17_7579473_G_C - TP53_010112 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 - 6/60466 cases - 0 - BRIDGES consortium
?/. - c.214C>G r.(?) p.(Pro72Ala) - NA g.7579473G>C - chr17_7579473_G_C - TP53_010112 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 - 4/53461 controls - 0 - BRIDGES consortium
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