All variants in the TP53 gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
-?/. - c.217G>A r.(?) p.(Val73Met) - likely benign g.7579470C>T g.7676152C>T - - TP53_010060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.217G>A r.(?) p.(Val73Met) - VUS g.7579470C>T g.7676152C>T - - TP53_010060 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587782423 Germline - 2/12490 controls - 0 - Yukihide Momozawa
+?/. 4 c.217G>A r.(?) p.(Val73Met) - pathogenic g.7579470C>T g.7676152C>T - - TP53_010060 - - - - Somatic - - - - - Anja Bukovac
+?/. 4 c.217G>A r.(?) p.(Val73Met) - pathogenic g.7579470C>T g.7676152C>T - - TP53_010060 - - - - Somatic - - - - - Anja Bukovac
+?/. 4 c.217G>A r.(?) p.(Val73Met) - pathogenic g.7579470C>T g.7676152C>T - - TP53_010060 - - - - Somatic - - - - - Anja Bukovac
?/. - c.217G>A r.(?) p.(Val73Met) - NA g.7579470C>T - chr17_7579470_C_T - TP53_010060 not in 60466 cases; 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 - 2/53461 controls - 0 - BRIDGES consortium
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