Individual #00017914

Reference -
Gender F
Geographic origin Malateika, Aetolia-Acarnania
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     
0000010738 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002045 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.29449762T>C - ALK_000003 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3067+26A>G r.(=) p.(=)
2 Parent #2 ?/? g.47635737G>T - MSH2_000037 - - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.366+43G>T, NM_001258281.1:c.168+43G>T r.(=) p.(=)
2 Parent #2 ?/? g.128051080C>A - ERCC3_000043 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.234+9G>T r.(=) p.(=)
3 Parent #2 ?/? g.37061775_37061778del - MLH1_000065 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.885-26_885-23del, NM_001167617.1:c.591-26_591-23del, NM_001167618.1:c.162-26_162-23del, NM_001167619.1:c.162-26_162-23del, NM_001258271.1:c.885-26_885-23del, NM_001258273.1:c.162-26_162-23del, NM_001258274.1:c.162-26_162-23del r.(=) p.(=)
6 Parent #2 ?/? g.35427195G>A - FANCE_000046 rs763145289 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1201G>A r.(?) p.(Ala401Thr)
8 Parent #2 ?/? g.90990575T>C - NBN_000051 - - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.481-24A>G r.(=) p.(=)
10 Parent #2 -?/-? g.43609136C>T - RET_000021 rs375573788 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1879+13C>T, NM_020975.4:c.1879+13C>T r.(=) p.(=)
10 Parent #2 ./. g.123346170G>A - chr10_000005 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 -/- g.32912560G>A - BRCA2_000025 rs28897724 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4068G>A r.(=) p.(=)
17 Parent #2 ?/? g.59937272T>A - BRIP1_000011 - - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.94-4A>T r.spl? p.?
Legend