Individual #00016689

Reference -
Gender F
Geographic origin Zacharo, Elis
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
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     
0000008891 47y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000354 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.233199496C>T - DIS3L2_000024 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8559C>T, NM_152383.4:c.2394+51C>T r.(=) p.(=)
3 Parent #2 ?/? g.10105641C>T - FANCD2_000047 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1947+46C>T, NM_033084.3:c.1947+46C>T r.(=) p.(=)
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.(=)
9 Parent #2 ?/? g.135772705C>G - TSC1_000014 rs1417111404 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2841G>C, NM_001162426.1:c.2838G>C, NM_001162427.1:c.2688G>C r.(?) p.(Arg947Ser), p.(Arg946Ser), p.(Arg896Ser)
10 Parent #2 ?/? g.43614950C>T - RET_000010 rs112200125 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2393-29C>T, NM_020975.4:c.2393-29C>T r.(=) p.(=)
11 Parent #2 ?/? g.108201108T>G - ATM_000003 rs56399857 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
13 Parent #2 ?/? g.48954153C>A - RB1_000012 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-36C>A r.(=) p.(=)
14 Both (homozygous) ?/? g.45650888C>T - FANCM_000006 rs200360968 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4366C>T r.(?) p.(Arg1456Cys)
16 Parent #2 -?/-? g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3815-15G>A, NM_001077183.1:c.3682+623G>A, NM_001114382.1:c.3814+623G>A r.(=) p.(=)
16 Parent #2 ?/? g.50830266C>T - CYLD_000009 rs1163356265 - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2709C>T, NM_001042412.1:c.2709C>T, NM_015247.2:c.2718C>T r.(=) p.(=)
Legend