Individual #00017928

Reference -
Gender F
Geographic origin Ageliana, Rethymn
Geographic origin Livadia, Rethymn
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     
0000010761 37y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002072 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.58388802G>A - FANCL_000016 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.919-29C>T, NM_018062.3:c.904-29C>T r.(=) p.(=)
3 Parent #2 -?/-? g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1891-30G>C r.(=) p.(=)
3 Parent #2 -/- g.52439240T>C - BAP1_000002 rs28997577 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1002A>G r.(=) p.(=)
3 Parent #2 -?/-? g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.660-26T>A r.(=) p.(=)
6 Parent #2 ./. g.29918140G>A - chr6_000018 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.55259373G>A - EGFR_000021 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2470-39G>A r.(=) p.(=)
10 Parent #2 ?/? g.43606699C>T - RET_000101 - - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1308C>T, NM_020975.4:c.1308C>T r.(=) p.(=)
11 Parent #2 -?/-? g.95561072A>G - CEP57_000040 rs933546735 - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.981A>G, NM_001243777.1:c.930A>G, NM_014679.4:c.1008A>G r.(=) p.(=)
19 Parent #2 -?/-? g.1221320G>A - STK11_000046 rs756095270 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.843G>A r.(=) p.(=)
22 Parent #2 ?/? g.29083837T>A - CHEK2_000032 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*48A>T, NM_001257387.1:c.*48A>T, NM_007194.3:c.*48A>T, NM_145862.2:c.*48A>T r.(=) p.(=)
Legend