Individual #00016578

Reference -
Gender F
Geographic origin Mytilene
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     
0000008723 72y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000279 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.233194706T>C - DIS3L2_000033 rs775814377 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-13349T>C, NM_152383.4:c.1923T>C r.(=) p.(=)
3 Parent #2 ?/? g.10085280A>G - FANCD2_000044 rs664233 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1098+4A>G, NM_033084.3:c.1098+4A>G r.spl? p.?
6 Parent #2 -/- g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1572G>A r.(=) p.(=)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ?/? g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.251-11C>G r.(=) p.(=)
7 Parent #2 ?/? g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.250+51C>T r.(=) p.(=)
7 Parent #2 ?/? g.66453508A>T - SBDS_000010 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-22T>A r.(=) p.(=)
7 Parent #2 ?/? g.66453515C>A - SBDS_000009 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-29G>T r.(=) p.(=)
8 Both (homozygous) -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
8 Parent #2 -/- g.30954294C>T - WRN_000030 rs148286708 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1909C>T r.(?) p.(Arg637Trp)
10 Parent #2 ./. g.51549533T>G - chr10_000002 rs41274660 - - - - - - Despoina Kalfakakou - - - -
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.89755867T>C - chr16_000007 - - - - - - - Despoina Kalfakakou - - - -
22 Parent #2 ?/? g.29091142C>T - CHEK2_000016  rs1555913429 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1477G>A, NM_001257387.1:c.685G>A, NM_007194.3:c.1348G>A, NM_145862.2:c.1261G>A r.(?) p.(Glu493Lys), p.(Glu229Lys), p.(Glu450Lys), p.(Glu421Lys)
Legend