Variant #0000001278 (NC_000017.11:g.7670673C>A, TP53(NM_000546.5):c.1036G>T)

Individual ID 00000260
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.7670673C>A
Published as E346X
Reference Daphne S C Lee et al. (2012), dbSNP, ClinVar
DB-ID TP53_000049
dbSNP ID rs1567542019
Frequency 1/3
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
TP53 NM_000546.5 +/. 10 c.1036G>T - r.(?) p.(Glu346*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000275 DNA SEQ TP53 3 Nuur Athirah Binti Mohd Daud