Individual #00016389

Reference -
Gender F
Geographic origin Distomo, Boeotia
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     
0000008442 39y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000108 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
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     
1 Parent #2 ?/? g.193094213_193094214insA - CDC73_000002 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.132-29_132-28insA r.(=) p.(=)
2 Parent #2 ?/? g.47672756A>G - MSH2_000001 rs879254064 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1346A>G, NM_001258281.1:c.1148A>G r.(?) p.(Lys449Arg), p.(Lys383Arg)
2 Parent #2 ?/? g.48018232G>A - MSH6_000014 rs876661110 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.427G>A, NM_001281492.1:c.238-7518G>A, NM_001281493.1:c.-310G>A, NM_001281494.1:c.-476G>A r.(?), r.(=) p.(Val143Ile), p.(=)
7 Parent #2 -?/-? g.6026959G>C - PMS2_000006 rs63750685 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
7 Parent #2 ?/? g.55266504C>A - EGFR_000008 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2796C>A r.(=) p.(=)
7 Parent #2 ?/? g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.*10A>G r.(=) p.(=)
9 Parent #2 ?/? g.135777958C>T - TSC1_000002 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2391+34G>A, NM_001162426.1:c.2388+34G>A, NM_001162427.1:c.2238+34G>A r.(=) p.(=)
10 Parent #2 -/- g.72357857T>C - PRF1_000001 rs149776121 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1620A>G, NM_005041.4:c.1620A>G r.(=) p.(=)
15 Parent #2 +/+ g.91310151_91310152insT - BLM_000016 rs886051551 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2205_2206insT r.(?) p.(Tyr736Leufs*5)
15 Parent #2 +/+ g.91310154T>G - BLM_000017 rs865899765 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2208T>G r.(?) p.(Tyr736*)
15 Parent #2 ?/? g.91310155C>A - BLM_000008 rs901867383 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2209C>A r.(?) p.(Leu737Met)
15 Parent #2 -?/-? g.91310157G>T - BLM_000009 rs933356579 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2211G>T r.(=) p.(=)
15 Parent #2 ?/? g.91310158A>C - BLM_000010 rs1050741211 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2212A>C r.(?) p.(Thr738Pro)
15 Parent #2 -?/-? g.91347463T>A - BLM_000004 rs1801256 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3625T>A r.(?) p.(Ser1209Thr)
16 Parent #2 -?/-? g.68853297G>C - CDH1_000013  rs35741240 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1680G>C r.(=) p.(=)
17 Parent #2 ?/? g.29587367A>G - NF1_000033 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4368-20A>G, NM_001042492.2:c.4431-20A>G r.(=) p.(=)
18 Parent #2 ./. g.43317004C>T - chr18_000002 - - - - - - - Despoina Kalfakakou - - - -
19 Parent #2 ?/? g.45860830_45860831insG - ERCC2_000010 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1308-30_1308-29insC, NM_001130867.1:c.*1287_*1288insC r.(=) p.(=)
Legend