Variant #0000002276 (NC_000017.11:g.7675232G>A, NM_000546.5:c.380C>T (TP53))

Individual ID 00000493
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.7675232G>A
Published as S127F, S88F
Reference dbSNP, ClinVar
DB-ID TP53_000057
dbSNP ID rs730881999
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 09:56:50 +08:00 (CST)
Date last edited 2021-08-01 13:17:42 +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.380C>T - r.(?) p.(Ser127Phe) missense Likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000539 DNA SEQ TP53 2 Nuur Athirah Binti Mohd Daud