Individual #00020814

Reference -
Gender F
Geographic origin Samos
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, PNCA2, RCC
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     
0000012615 61y - - - - Despoina Kalfakakou

Pancreatic cancer 2 (PNCA2)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012613 63y - - - Despoina Kalfakakou

Renal cell carcinoma (RCC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012614 49y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001500 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.29940500T>G - ALK_000084 rs763986679 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.731A>C r.(?) p.(Asn244Thr)
2 Parent #2 -?/-? g.48033829C>G - MSH6_000004 rs201482798 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.4001+39C>G, NM_001281492.1:c.3611+39C>G, NM_001281493.1:c.3095+39C>G, NM_001281494.1:c.3095+39C>G r.(=) p.(=)
2 Parent #2 ?/? g.233199492A>G - DIS3L2_000023 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8563A>G, NM_152383.4:c.2394+47A>G r.(=) p.(=)
5 Parent #2 ./. g.1342738T>C - chr5_000035 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 -/- g.32913691C>T - BRCA2_000002 rs28897734 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5199C>T r.(=) p.(=)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
15 Parent #2 ?/? g.40488771A>G - BUB1B_000054 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.1084A>G r.(?) p.(Ile362Val)
15 Parent #2 ?/? g.89806601T>C - FANCI_000028 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.504-49T>C, NM_018193.2:c.504-49T>C r.(=) p.(=)
16 Parent #2 -?/-? g.2110765C>T - TSC2_000010 rs150195368 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1070C>T, NM_001077183.1:c.1070C>T, NM_001114382.1:c.1070C>T r.(?) p.(Ala357Val)
17 Parent #2 -/- g.74469185C>T - RHBDF2_000007 rs138683747 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1812G>A, NM_024599.5:c.1899G>A r.(=) p.(=)
Legend