Variant #0000002279 (NC_000017.11:g.7675140G>A, NM_000546.5:c.472C>T (TP53))

Individual ID 00000494
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.7675140G>A
Published as -
Reference dbSNP, ClinVar
DB-ID TP53_000059
dbSNP ID rs587780068
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 10:08:01 +08:00 (CST)
Date last edited 2021-08-01 13:17:55 +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.472C>T - r.(?) p.(Arg158Cys) missense Likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000540 DNA SEQ TP53 2 Nuur Athirah Binti Mohd Daud