Variant #0000000698 (NC_000017.11:g.7674220C>T, TP53(NM_000546.5):c.743G>A)

Individual ID 00000133
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.7674220C>T
Published as R248Q
Reference Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar
DB-ID TP53_000015
dbSNP ID rs11540652
Frequency 2/31
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 +/. 7 c.743G>A - r.(?) p.(Arg248Gln) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000148 DNA PCR;SEQ TP53 27 Nuur Athirah Binti Mohd Daud