Individual #00017371

Reference -
Gender F
Geographic origin Pallini, Attica Region
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     
0000009821 28y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001035 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     
1 Parent #2 ?/? g.17380531A>C - SDHB_000018 - - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.-17T>G r.(=) p.(=)
4 Parent #2 -/- g.55604597T>A - KIT_000013 rs72549296 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2805T>A, NM_001093772.1:c.2793T>A r.(=) p.(=)
11 Parent #2 +/+ g.108205807G>A - ATM_000141 rs587782719 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.8122G>A r.(?) p.(Asp2708Asn)
16 Parent #2 -?/-? g.2129105T>C - TSC2_000186 rs149098424 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3039T>C, NM_001077183.1:c.2907T>C, NM_001114382.1:c.3039T>C r.(=) p.(=)
16 Parent #2 ?/? g.14028125A>G - ERCC4_000030 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1179A>G r.(=) p.(=)
17 Parent #2 -/- g.74470203T>C - RHBDF2_000035 rs150723002 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1486A>G, NM_024599.5:c.1573A>G r.(?) p.(Lys496Glu), p.(Lys525Glu)
Legend