Individual #00017035

Reference -
Gender F
Geographic origin Giannitsa
Geographic origin Nymfaio, Florina
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa
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     
0000009368 52y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000779 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.10183714C>G - VHL_000004 rs63650860 - Germline - - - - Despoina Kalfakakou VHL - NM_000551.3:c.183C>G, NM_198156.2:c.183C>G r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.1286469A>G - chr5_000002 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ?/? g.112177191C>G - APC_000033 rs1561603538 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.5900C>G, NM_001127510.2:c.5900C>G, NM_001127511.2:c.5846C>G r.(?) p.(Ser1967Cys), p.(Ser1949Cys)
8 Parent #2 ?/? g.30954286G>A - WRN_000006 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1901G>A r.(?) p.(Gly634Asp)
8 Parent #2 ./. g.128413321A>G - chr8_000027 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -/- g.47256343G>A - DDB2_000002 rs144266685 - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.738G>A r.(=) p.(=)
11 Parent #2 ?/? g.64574727C>T - MEN1_000006 - - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.799-36G>A, NM_130799.2:c.784-36G>A, NM_130800.2:c.799-36G>A, NM_130801.2:c.799-36G>A, NM_130802.2:c.799-36G>A, NM_130803.2:c.799-36G>A, NM_130804.2:c.799-36G>A r.(=) p.(=)
14 Parent #2 ?/? g.45605287G>A - FANCM_000033 rs146609069 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.53G>A r.(?) p.(Arg18Gln)
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.56772592_56772593del - RAD51C_000020 - - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.*38_*39del, NM_058216.2:c.404+42_404+43del r.(=) p.(=)
Legend