Individual #00016413

Reference -
Gender F
Geographic origin Kavala
Geographic origin Eleftheroupoli
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, NHL
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     
0000008475 76y - - - - Despoina Kalfakakou
0000008476 40y - - - - Despoina Kalfakakou

Lymphoma, non-Hodgkin (NHL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000008477 40y - - - Despoina Kalfakakou
0000008478 77y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000125 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
3 Parent #2 ?/? g.10191696A>G - VHL_000002 - - Germline - - - - Despoina Kalfakakou VHL - NM_000551.3:c.*47A>G, NM_198156.2:c.*47A>G r.(=) p.(=)
4 Parent #2 ./. g.27162439C>T - chr4_000003 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ?/? g.176639139A>G - NSD1_000005 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.3739A>G, NM_172349.2:c.2932A>G r.(?) p.(Met1247Val), p.(Met978Val)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
8 Parent #2 ?/? g.145739127G>A - RECQL4_000010 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-31C>T - p.?
9 Parent #2 ?/? g.98011497G>A - FANCC_000007 rs1800361 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
13 Parent #2 -/- g.32911547C>G - BRCA2_000022 rs55638633 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3055C>G r.(?) p.(Leu1019Val)
14 Parent #2 ?/? g.45624550A>G - FANCM_000003 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1310-26A>G r.(=) p.(=)
16 Parent #2 -?/-? g.2104368T>G - TSC2_000035 rs1037058497 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.408T>G, NM_001077183.1:c.408T>G, NM_001114382.1:c.408T>G r.(=) p.(=)
16 Parent #2 -?/-? g.23634273A>G - PALB2_000009 rs180177128 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2996+17T>C r.(=) p.(=)
16 Parent #2 ?/? g.89877419C>T - FANCA_000009 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.344G>A, NM_001018112.1:c.344G>A r.(?) p.(Gly115Glu)
Legend