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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008475 76y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou
0000008476 40y - - N/A N/A N/A N/A N/A N/A N/A - - - Despoina Kalfakakou

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

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

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 - - - - - - - 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 - - - - - - - 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 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
8 Parent #2 ./. g.145739127G>A - RECQL4_000010 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-31C>T - p.?
9 Parent #2 ./. g.98011497G>A - FANCC_000007 rs1800361 - - - - - - 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 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3055C>G r.(?) p.(Leu1019Val)
14 Parent #2 ./. g.45624550A>G - FANCM_000003 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1310-26A>G r.(=) p.(=)
16 Parent #2 ./. g.2104368T>G - TSC2_000035 - - - - - - - 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 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2996+17T>C r.(=) p.(=)
16 Parent #2 ./. g.89877419C>T - FANCA_000009 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.344G>A, NM_001018112.1:c.344G>A r.(?) p.(Gly115Glu)
Legend