Individual #00020959

Reference -
Gender M
Geographic origin Zakynthos
Geographic origin Kyllini, Ilia
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CMM3, LuCa, RCC
Owner name Despoina Kalfakakou


Phenotypes

Melanoma, cutaneous malignant, 3 (CMM3)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012917 45y - - - Despoina Kalfakakou

Lung Cancer (LuCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012915 49y - - Acinar Despoina Kalfakakou

Renal cell carcinoma (RCC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012916 45y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001619 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.29448464C>A - ALK_000093 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3068-33G>T r.(=) p.(=)
2 Parent #2 ?/? g.128044501A>T - ERCC3_000052 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1120T>A r.(?) p.(Trp374Arg)
3 Parent #2 -?/-? g.37067096_37067103del - MLH1_000058 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
8 Parent #2 ?/? g.90955501A>C - NBN_000015 - - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.2164T>G r.(?) p.(Trp722Gly)
10 Parent #2 ./. g.51549533T>G - chr10_000002 rs41274660 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
13 Parent #2 ?/? g.103518193G>T - ERCC5_000045 rs760008264 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2131G>T r.(?) p.(Asp711Tyr)
16 Parent #2 ?/? g.68835823C>T - CDH1_000007 rs33932809 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.387+27C>T r.(=) p.(=)
Legend