Variant #0000407703 (NC_000017.10:g.7579705C>T, TP53(NM_000546.5):c.91G>A)

Individual ID 00182853
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7579705C>T
DNA change (hg38) g.7676387C>T
Published as -
ISCN -
DB-ID TP53_010118 See all 9 reported entries
Variant remarks -
Reference PubMed: Momozawa 2018, Journal: Momozawa 2018
ClinVar ID -
dbSNP ID rs201753350
Origin Germline
Segregation -
Frequency 1/12490 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00022 View details
Owner Yukihide Momozawa
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 -/. - c.91G>A r.(?) p.(Val31Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000183813 DNA SEQ - - TP53 1 Yukihide Momozawa