Variant #0000002281 (NC_000017.11:g.7674945G>A, NM_000546.5:c.586C>T (TP53))

Individual ID 00000496
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.7674945G>A
Published as R64X, R37X, R196X, R157X
Reference dbSNP, ClinVar
DB-ID TP53_000042 See all 3 reported entries
dbSNP ID rs397516435
Frequency 1/10
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 2021-03-09 10:24:15 +08:00 (CST)
Date last edited 2021-08-01 13:18:32 +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 +/. - c.586C>T - r.(?) p.(Arg196*) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000542 DNA SEQ TP53 1 Nuur Athirah Binti Mohd Daud