Individual #00017337

Reference -
Gender F
Geographic origin Phocis
Geographic origin Patra
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     
0000009780 38y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000999 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.47606896del - EPCAM_000007 - - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.658-12del r.(=) p.(=)
3 Both (homozygous) -?/-? g.37067096_37067102del - MLH1_000005 rs71831268 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-26del, NM_001167617.1:c.745-32_745-26del, NM_001167618.1:c.316-32_316-26del, NM_001167619.1:c.316-32_316-26del, NM_001258271.1:c.1039-32_1039-26del, NM_001258273.1:c.316-32_316-26del, NM_001258274.1:c.316-32_316-26del r.(=) p.(=)
11 Parent #2 ?/? g.533404C>T - HRAS_000013 - - Germline - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.450+49G>A, NM_005343.2:c.450+49G>A, NM_176795.3:c.451-46G>A r.(=) p.(=)
17 Parent #2 ?/? g.29685668G>C - NF1_000217 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.8050+28G>C, NM_001042492.2:c.8113+28G>C r.(=) p.(=)
22 Parent #2 -?/-? g.29121077T>C - CHEK2_000006 rs575910805 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.609A>G, NM_001257387.1:c.-298A>G, NM_007194.3:c.480A>G, NM_145862.2:c.480A>G r.(=), r.(?) p.(Ile203Met), p.(=), p.(Ile160Met)
Legend