Variant #0000001282 (NC_000017.11:g.7673767C>T, NM_000546.5:c.853G>A (TP53))

Individual ID 00000261
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.7673767C>T
Published as p. E285K
Reference Daphne S C Lee et al. (2012), dbSNP, ClinVar
DB-ID TP53_000052
dbSNP ID rs112431538
Frequency 1/4
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
Date created 2020-12-15 12:16:14 +08:00 (CST)
Date last edited 2021-08-30 11:56:19 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
TP53 NM_000546.5 ./. 8 c.853G>A - r.(?) p.(Glu285Lys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000276 DNA SEQ TP53 4 Nuur Athirah Binti Mohd Daud