Individual #00016909

Reference -
Gender F
Geographic origin Kyriaki, Boeotia
Geographic origin Chostia, Boeotia
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     
0000009190 46y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000662 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.29416833A>G - ALK_000029 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.4165-45T>C r.(=) p.(=)
2 Parent #2 ?/? g.128044616C>T - ERCC3_000004 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1028-23G>A r.(=) p.(=)
2 Parent #2 -?/-? g.233028241C>T - DIS3L2_000010 rs201122747 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1023C>T, NM_152383.4:c.1023C>T r.(=) p.(=)
2 Parent #2 ?/? g.233195514C>G - DIS3L2_000013 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12541C>G, NM_152383.4:c.2010+28C>G r.(=) p.(=)
3 Parent #2 -/- g.37067410G>A - MLH1_000011 rs63750365 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1321G>A, NM_001167617.1:c.1027G>A, NM_001167618.1:c.598G>A, NM_001167619.1:c.598G>A, NM_001258271.1:c.1321G>A, NM_001258273.1:c.598G>A, NM_001258274.1:c.598G>A r.(?) p.(Ala441Thr), p.(Ala343Thr), p.(Ala200Thr)
4 Parent #2 -?/-? g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.726A>G r.(=) p.(=)
6 Parent #2 ./. g.29918140G>A - chr6_000018 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ?/? g.91346959_91346960del - BLM_000045 - - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3558+9_3558+10del r.(=) p.(=)
16 Parent #2 ?/? g.14042178G>A - ERCC4_000020 rs140726146 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2725G>A r.(?) p.(Val909Ile)
16 Parent #2 ?/? g.89862278T>C - FANCA_000070 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1006+36A>G, NM_001018112.1:c.*3209A>G r.(=) p.(=)
17 Parent #2 ?/? g.7579878G>A - TP53_000006 rs1482497533 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.35C>T, NM_001126112.2:c.35C>T, NM_001126113.2:c.35C>T, NM_001126114.2:c.35C>T, NM_001126115.1:c.-1345C>T, NM_001126116.1:c.-1345C>T, NM_001126117.1:c.-1345C>T, NM_001126118.1:c.-200C>T, NM_001276695.1:c.-83C>T, NM_001276696.1:c.-83C>T, NM_001276697.1:c.-1426C>T, NM_001276698.1:c.-1426C>T, NM_001276699.1:c.-1426C>T, NM_001276760.1:c.-83C>T, NM_001276761.1:c.-83C>T r.(?), r.(=) p.(Pro12Leu), p.(=)
22 Parent #2 -?/-? g.30069341C>T - NF2_000002 rs137953976 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1206C>T, NM_016418.5:c.1206C>T, NM_181825.2:c.1206C>T, NM_181828.2:c.1080C>T, NM_181829.2:c.1083C>T, NM_181830.2:c.957C>T, NM_181831.2:c.957C>T, NM_181832.2:c.1206C>T, NM_181833.2:c.448-21400C>T r.(=) p.(=)
X Parent #2 ./. g.51210061T>C - chrX_000001 - - - - - - - Despoina Kalfakakou - - - -
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