Variant #0000001268 (NC_000017.11:g.7674935C>A, NM_000546.5:c.596G>T (TP53))

Individual ID 00000253
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.7674935C>A
Published as G199V
Reference dbSNP, ClinVar
DB-ID TP53_000047
dbSNP ID rs1555525857
Frequency 1/2
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 2020-12-14 11:15:36 +08:00 (CST)
Date last edited 2021-08-30 14:44:19 +08:00 (CST)
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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 +/. - c.596G>T - r.(?) p.(Gly199Val) - rs1555525857



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000268 DNA IHC;SEQ-NG TP53 2 Nuur Athirah Binti Mohd Daud