Individual #00016895

Reference -
Gender F
Geographic origin Athens
Geographic origin Naxos
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     
0000009169 46y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000637 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.48018275A>G - MSH6_000013 rs1800933 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.457+13A>G, NM_001281492.1:c.238-7475A>G, NM_001281493.1:c.-280+13A>G, NM_001281494.1:c.-446+13A>G r.(=) p.(=)
10 Parent #2 -?/-? g.43609136C>T - RET_000021 rs375573788 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1879+13C>T, NM_020975.4:c.1879+13C>T r.(=) p.(=)
11 Parent #2 ?/? g.108139364_108139365insA - ATM_000046 rs2234995 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2838+28_2838+29insA r.(=) p.(=)
11 Parent #2 -?/-? g.108180917T>C - ATM_000069 rs3092910 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5793T>C r.(=) p.(=)
11 Parent #2 -?/-? g.108236264C>G - ATM_000080 rs3218711 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.*29C>G r.(=) p.(=)
13 Parent #2 -/- g.32907407A>G - BRCA2_000034 rs28897710 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1792A>G r.(?) p.(Thr598Ala)
14 Parent #2 ?/? g.95583084G>A - DICER1_000036 - - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.1510-52C>T, NM_001271282.1:c.1510-52C>T, NM_030621.3:c.1510-52C>T, NM_177438.2:c.1510-52C>T r.(=) p.(=)
15 Parent #2 -?/-? g.91354640T>G - BLM_000007 rs183176301 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4076+4T>G r.spl? p.?
16 Parent #2 ?/? g.2129017C>T - TSC2_000121 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2967-16C>T, NM_001077183.1:c.2838-19C>T, NM_001114382.1:c.2967-16C>T r.(=) p.(=)
Legend