Individual #00017894

Reference -
Gender F
Geographic origin Kilkis
Geographic origin Kavala
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     
0000010700 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002010 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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.48025738C>T - MSH6_000072 rs752105994 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.628-12C>T, NM_001281492.1:c.238-12C>T, NM_001281493.1:c.-279-12C>T, NM_001281494.1:c.-275-16C>T r.(=) p.(=)
10 Parent #2 ?/? g.43613908A>T - RET_000003 rs77724903 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2372A>T, NM_020975.4:c.2372A>T r.(?) p.(Tyr791Phe)
14 Parent #2 ?/? g.65544657C>T - MAX_000014 rs876659562 - Germline - - - - Despoina Kalfakakou MAX - NM_001271069.1:c.144+15769G>A, NM_002382.4:c.269G>A, NM_145112.2:c.242G>A, NM_145113.2:c.269G>A, NM_197957.3:c.171+15769G>A r.(?), r.(=) p.(Arg90Gln), p.(Arg81Gln), p.(=)
15 Parent #2 ?/? g.40509781G>C - BUB1B_000017 rs28989183 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2763G>C r.(?) p.(Gln921His)
16 Parent #2 ?/? g.2136922_2136923insT - TSC2_000219 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4989+50_4989+51insT, NM_001077183.1:c.4788+50_4788+51insT, NM_001114382.1:c.4920+50_4920+51insT r.(=) p.(=)
16 Parent #2 ?/? g.3639713G>A - SLX4_000154 rs556682517 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3926C>T r.(?) p.(Ser1309Phe)
Legend