Individual #00016079

Reference -
Gender F
Geographic origin Pontus
Geographic origin -
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     
0000007994 30y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000032 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.233198504T>C - DIS3L2_000008 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-9551T>C, NM_152383.4:c.2011-46T>C r.(=) p.(=)
3 Parent #2 -?/-? g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1891-30G>C r.(=) p.(=)
3 Parent #2 -/- g.52439240T>C - BAP1_000002 rs28997577 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1002A>G r.(=) p.(=)
3 Parent #2 -?/-? g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.660-26T>A r.(=) p.(=)
4 Parent #2 ?/? g.55573494C>A - KIT_000002 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1115+41C>A, NM_001093772.1:c.1115+41C>A r.(=) p.(=)
9 Parent #2 -/- g.97912307T>A - FANCC_000001 rs1800365 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.584A>T, NM_001243743.1:c.584A>T, NM_001243744.1:c.584A>T r.(?) p.(Asp195Val)
11 Parent #2 -?/-? g.108196145C>T - ATM_000011 rs775850434 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6681C>T r.(=) p.(=)
14 Parent #2 ?/? g.45654582T>C - FANCM_000009 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4672+6T>C r.(=) p.(=)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 -?/-? g.2130284C>T - TSC2_000025 rs1555511474 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3516C>T, NM_001077183.1:c.3384C>T, NM_001114382.1:c.3516C>T r.(=) p.(=)
16 Parent #2 -?/-? g.89805915G>A - FANCA_000022 rs141278771 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3981C>T r.(=) p.(=)
17 Parent #2 -/- g.29677184C>T - NF1_000028 rs17884859 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7259-17C>T, NM_001042492.2:c.7322-17C>T r.(=) p.(=)
18 Parent #2 ./. g.43317004C>T - chr18_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend