Individual #00017108

Reference -
Gender F
Geographic origin Arta
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     
0000009453 33y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000824 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou



Variants

5 entries on 1 page. Showing entries 1 - 5.
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.128046489A>G - ERCC3_000019 rs72845952 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.823-49T>C r.(=) p.(=)
10 Parent #2 ?/? g.72360449G>A - PRF1_000013 rs202134601 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.210C>T, NM_005041.4:c.210C>T r.(=) p.(=)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
14 Parent #2 ?/? g.45624050G>A - FANCM_000002 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1309+25G>A r.(=) p.(=)
17 Parent #2 -?/-? g.7579895T>G - TP53_000015  rs573130482 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.18A>C, NM_001126112.2:c.18A>C, NM_001126113.2:c.18A>C, NM_001126114.2:c.18A>C, NM_001126115.1:c.-1362A>C, NM_001126116.1:c.-1362A>C, NM_001126117.1:c.-1362A>C, NM_001126118.1:c.-217A>C, NM_001276695.1:c.-100A>C, NM_001276696.1:c.-100A>C, NM_001276697.1:c.-1443A>C, NM_001276698.1:c.-1443A>C, NM_001276699.1:c.-1443A>C, NM_001276760.1:c.-100A>C, NM_001276761.1:c.-100A>C r.(=) p.(=)
Legend