Variant #0000001611 (NC_000017.11:g.7674945G>A, TP53(NM_000546.5):c.586C>T)

Individual ID 00000348
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 -
Reference A Jafri et al. (2003), dbSNP, ClinVar
DB-ID TP53_000042 See all 3 reported entries
dbSNP ID rs397516435
Frequency 1/33
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
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 +/. 6 c.586C>T - r.(?) p.(Arg196*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000362 DNA PCR;SEQ;SSCA TP53 9 Nuur Athirah Binti Mohd Daud