Individual #00016859

Reference -
Gender F
Geographic origin Stolos, Kynouria
Geographic origin Elaiochorio, Kynouria
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, ColPol, SkCa, TRC
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000009123 52y - - - - Despoina Kalfakakou

Skin Cancer (SkCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009124 58y - - - Despoina Kalfakakou

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009125 53y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000591 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.190660533C>T - PMS1_000020 rs756254396 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.171C>T, NM_001128143.1:c.171C>T, NM_001128144.1:c.171C>T r.(=) p.(=)
7 Parent #2 ?/? g.116436141T>G - MET_000023 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.4136T>G, NM_001127500.1:c.4190T>G r.(?) p.(Val1379Gly), p.(Val1397Gly)
11 Parent #2 -?/-? g.108206637G>A - ATM_000098 rs759069006 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.8217G>A r.(=) p.(=)
13 Parent #2 -?/-? g.32968890A>C - BRCA2_000096 rs876658703 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9321A>C r.(=) p.(=)
14 Parent #2 ?/? g.45652950T>C - FANCM_000040 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4387-27T>C r.(=) p.(=)
16 Parent #2 -?/-? g.68835754G>A - CDH1_000006  rs1801023 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
16 Parent #2 -/- g.68845646G>A - CDH1_000011 rs142822590 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.892G>A r.(?) p.(Ala298Thr)
17 Parent #2 ?/? g.29559062_29559063del - NF1_000157 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3198-29_3198-28del, NM_001042492.2:c.3198-29_3198-28del r.spl? p.?
17 Parent #1 ?/? g.29559063dup - NF1_000158 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3198-28dup, NM_001042492.2:c.3198-28dup r.spl? p.?
22 Parent #2 ?/? g.24175942A>G - SMARCB1_000007 - - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.1091+52A>G, NM_003073.3:c.1118+52A>G r.(=) p.(=)
Legend