Individual #00017607

Reference -
Gender F
Geographic origin Kalamata
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, ENC, OVCA
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     
0000010141 58y - - - - Despoina Kalfakakou

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000010142 54y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000010143 54y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001273 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.29917736C>T - ALK_000001 rs150966028 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.932G>A r.(?) p.(Arg311His)
5 Parent #2 -?/-? g.112111309T>A - APC_000030 rs534684461 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.423-17T>A, NM_001127510.2:c.423-17T>A, NM_001127511.2:c.453-17T>A r.(=) p.(=)
10 Parent #2 ./. g.123346170G>A - chr10_000005 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 +/+ g.32910831C>G - BRCA2_000044 rs587781471 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2339C>G r.(?) p.(Ser780*)
16 Parent #2 ?/? g.2110654C>A - TSC2_000214 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.976-17C>A, NM_001077183.1:c.976-17C>A, NM_001114382.1:c.976-17C>A r.(=) p.(=)
16 Parent #2 -/- g.2134492G>A - TSC2_000124 rs45438898 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4269G>A, NM_001077183.1:c.4068G>A, NM_001114382.1:c.4200G>A r.(=) p.(=)
16 Parent #2 -/- g.23637715G>A - PALB2_000027 rs45568339 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2590C>T r.(?) p.(Pro864Ser)
17 Parent #2 ?/? g.29497013A>G - NF1_000191 rs587778552 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.584A>G, NM_001042492.2:c.584A>G, NM_001128147.2:c.584A>G r.(?) p.(Lys195Arg)
17 Parent #2 -?/-? g.59853755C>T - BRIP1_000022 rs4988352 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2097+7G>A r.(=) p.(=)
17 Parent #2 -?/-? g.59938865C>A - BRIP1_000052 rs45566938 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.36G>T r.(=) p.(=)
Legend