Variant #0000000725 (NC_000017.11:g.7674872T>C, TP53(NM_000546.5):c.659A>G)

Individual ID 00000139
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.7674872T>C
Published as 7578190T > C / Y220C
Reference Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar
DB-ID TP53_000030
dbSNP ID rs121912666
Frequency 2/10
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
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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 +/. 6 c.659A>G - r.(?) p.(Tyr220Cys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000154 DNA SEQ-NG;PCR TP53 7 Nuur Athirah Binti Mohd Daud