Variant #0000402986 (NC_000017.10:g.7579882C>G, TP53(NM_000546.5):c.90C>T)

Individual ID 00178622
Chromosome 17
Allele Parent #1
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.7579882C>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID TP53_010119 See all 3 reported entries
Variant remarks not in 7051 cases breast cancer
Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message.
Reference PubMed: Momozawa 2018, Journal: Momozawa 2018
ClinVar ID -
dbSNP ID rs370992294
Origin Germline
Segregation -
Frequency 1/11241 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Yukihide Momozawa
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 -/. 3 c.90C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000179525 DNA SEQ - - TP53 1 Yukihide Momozawa