Individual #00016928

Reference -
Gender F
Geographic origin Lefkada
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     
0000009213 33y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000692 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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     
5 Parent #2 ?/? g.176700660T>C - NSD1_000036 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.5510-13T>C, NM_172349.2:c.4703-13T>C r.(=) p.(=)
8 Parent #2 ?/? g.119123072C>T - EXT1_000013 rs150818931 - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.214G>A r.(?) p.(Glu72Lys)
8 Parent #2 ./. g.128424757G>T - chr8_000009 rs76573300 - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 -?/-? g.98009786C>T - FANCC_000017 rs138629441 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.178G>A, NM_001243743.1:c.178G>A, NM_001243744.1:c.178G>A r.(?) p.(Val60Ile)
10 Parent #2 -?/-? g.104353395C>T - SUFU_000004 rs149513330 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.600C>T, NM_016169.3:c.600C>T r.(=) p.(=)
15 Parent #2 ?/? g.40500788G>A - BUB1B_000015 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2010-50G>A r.(=) p.(=)
Legend