Individual #00016111

Reference -
Gender M
Geographic origin Samos
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00016110
Panel size 1
Diseases LeioM, OSRC, RCC
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004940 DNA SEQ 0 TP53 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
17 Maternal (inferred) +/+ g.7571720_7590868del Fostira et al (2020) TP53_000041 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline ? TP53 exon 1 deletion - - Despoina Kalfakakou TP53 - NM_000546.5:c.(?), NM_001126112.2:c.(?), NM_001126113.2:c.(?), NM_001126114.2:c.(?), NM_001126115.1:c.(?), NM_001126116.1:c.(?), NM_001126117.1:c.(?), NM_001126118.1:c.(?), NM_001276695.1:c.(?), NM_001276696.1:c.(?), NM_001276697.1:c.(?), NM_001276698.1:c.(?), NM_001276699.1:c.(?), NM_001276760.1:c.(?), NM_001276761.1:c.(?) r.? p.?
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