Individual #00016912

Reference -
Gender M
Geographic origin Russia
Geographic origin Kissamos, Chania
Population Greek
Consanguinity no
Remarks -
Panel ID 00016910
Panel size 4
Diseases ALL, SkCa
Owner name Despoina Kalfakakou


Phenotypes

Acute Lymphoblastic Leukemia (ALL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009195 54y - - - Despoina Kalfakakou

Skin Cancer (SkCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009196 71y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000664 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.47635573A>C - MSH2_000046 - - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.245A>C, NM_001258281.1:c.47A>C r.(?) p.(Lys82Thr), p.(Lys16Thr)
2 Parent #2 ./. g.242371116T>C - chr2_000015 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ?/? g.37083797C>T - MLH1_000063 rs1559578814 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1706C>T, NM_001167617.1:c.1412C>T, NM_001167618.1:c.983C>T, NM_001167619.1:c.983C>T, NM_001258271.1:c.1706C>T, NM_001258273.1:c.983C>T, NM_001258274.1:c.983C>T r.(?) p.(Ala569Val), p.(Ala471Val), p.(Ala328Val)
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
11 Parent #2 +/+ g.108214075_108214084del Fostira et al (2020)  ATM_000106 rs786202800 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.8395_8404del r.(?) p.(Phe2799Lysfs*4)
15 Parent #2 ?/? g.89848515G>A - FANCI_000057 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3186+42G>A, NM_018193.2:c.3006+42G>A r.(=) p.(=)
16 Parent #2 ?/? g.3658953C>T - SLX4_000054 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.13G>A r.(?) p.(Val5Met)
16 Parent #2 ?/? g.50828088C>T - CYLD_000003 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-35C>T, NM_001042412.1:c.2461-35C>T, NM_015247.2:c.2470-35C>T r.(=) p.(=)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.29665168C>T - NF1_000187 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6756+11C>T, NM_001042492.2:c.6819+11C>T r.(=) p.(=)
Legend