Variant #0000500509 (NC_000017.10:g.(7579941_7590694)_(7590868_?)del, TP53(NM_000546.5):c.(?_-202)_(-29+1_-28-1)del)

Individual ID 00246551
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(7579941_7590694)_(7590868_?)del
DNA change (hg38) -
Published as c.(?_-17900)_(?_1-1)del
ISCN -
DB-ID TP53_010145
Variant remarks -
Reference PubMed: Fostira 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Florentia Fostira
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 +/. _1_1i c.(?_-202)_(-29+1_-28-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000247663 DNA SEQ - gene panel TP53 1 Florentia Fostira