Individual #00017881

Reference -
Gender F
Geographic origin Kiato, Corinth
Geographic origin Throfari, Corinth
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     
0000010682 57y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001291 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.29543635G>A - ALK_000077 rs201449759 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1528C>T r.(?) p.(Arg510Trp)
2 Parent #2 -/- g.48032033C>T - MSH6_000017 rs192614006 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3439-16C>T, NM_001281492.1:c.3049-16C>T, NM_001281493.1:c.2533-16C>T, NM_001281494.1:c.2533-16C>T r.(=) p.(=)
2 Parent #2 ./. g.63131691G>A - chr2_000008 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ?/? g.10106409G>A - FANCD2_000015 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2022-4G>A, NM_033084.3:c.2022-4G>A r.spl? p.?
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
7 Parent #2 -/- g.148526807G>A - EZH2_000010 rs140616632 - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.484+13C>T, NM_001203248.1:c.457+13C>T, NM_001203249.1:c.457+13C>T, NM_004456.4:c.484+13C>T, NM_152998.2:c.367+13C>T r.(=) p.(=)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C 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.?
17 Parent #2 -?/-? g.7574013G>A - TP53_000013  rs150293825 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.1014C>T, NM_001126112.2:c.1014C>T, NM_001126113.2:c.*33C>T, NM_001126114.2:c.*121C>T, NM_001126115.1:c.618C>T, NM_001126116.1:c.*121C>T, NM_001126117.1:c.*33C>T, NM_001126118.1:c.897C>T, NM_001276695.1:c.*33C>T, NM_001276696.1:c.*121C>T, NM_001276697.1:c.537C>T, NM_001276698.1:c.*121C>T, NM_001276699.1:c.*33C>T, NM_001276760.1:c.897C>T, NM_001276761.1:c.897C>T r.(=) p.(=)
22 Parent #2 -?/-? g.24175804C>T - SMARCB1_000014 rs149451748 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.1005C>T, NM_003073.3:c.1032C>T r.(=) p.(=)
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