Variant #0000402989 (NC_000017.10:g.7579885C>T, TP53(NM_000546.5):c.28G>A)

Individual ID 00178625
Chromosome 17
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.7579885C>T
DNA change (hg38) g.7676567C>T
Published as -
ISCN -
DB-ID TP53_010121 See all 4 reported entries
Variant remarks not in 7051 cases breast cancer
Reference PubMed: Momozawa 2018, Journal: Momozawa 2018
ClinVar ID -
dbSNP ID rs535274413
Origin Germline
Segregation -
Frequency 1/11241 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 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 ?/. 2 c.28G>A r.(?) p.(Val10Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000179528 DNA SEQ - - TP53 1 Yukihide Momozawa