Individual #00020574

Reference -
Gender M
Geographic origin Chios
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases RCC, RenLes
Owner name Despoina Kalfakakou


Phenotypes

Renal cell carcinoma (RCC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000013108 46y - - - II Negative Clear-cell - - Despoina Kalfakakou
0000013109 53y - - - II - Clear-cell I - Despoina Kalfakakou

Kidney lesions (RenLes)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013110 58y Cysts - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001475 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
Legend  

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     
2 Parent #2 ./. g.232952240A>G - DIS3L2_000018 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.410A>G, NM_001257282.1:c.410A>G, NM_152383.4:c.410A>G r.(?) p.(Tyr137Cys)
7 Parent #2 ./. g.50466295T>C - chr7_000009 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.55238940C>G - EGFR_000030 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+34C>G, NM_201282.1:c.*2718C>G, NM_201284.1:c.*703C>G r.(=) p.(=)
9 Parent #2 ./. g.135780988C>T - TSC1_000045 rs35958226 - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.1977G>A, NM_001162426.1:c.1974G>A, NM_001162427.1:c.1824G>A r.(=) p.(=)
11 Parent #2 ./. g.44129619C>T - EXT2_000039 - - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.456C>T, NM_001178083.1:c.357C>T, NM_207122.1:c.357C>T r.(=) p.(=)
11 Parent #2 ./. g.108123551C>T - ATM_000024 rs2227922 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1810C>T r.(?) p.(Pro604Ser)
11 Parent #2 ./. g.108160480T>G - ATM_000033 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4388T>G r.(?) p.(Phe1463Cys)
15 Parent #2 ./. g.89828441C>T - FANCI_000034 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1813C>T, NM_018193.2:c.1813C>T r.(?) p.(Leu605Phe)
17 Parent #2 ./. g.29508535A>G - NF1_000213 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.654+28A>G, NM_001042492.2:c.654+28A>G, NM_001128147.2:c.654+28A>G r.(=) p.(=)
21 Parent #2 ./. g.36259125T>C - RUNX1_000006 - - - - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.270+15A>G, NM_001122607.1:c.270+15A>G, NM_001754.4:c.351+15A>G r.(=) p.(=)
Legend