Individual #00017460

Reference -
Gender F
Geographic origin Kefalonia
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009931 53y - - Lobular Invasive N/A N/A Positive Positive Negative - - - Despoina Kalfakakou
0000009932 47y - - Lobular Invasive I N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001122 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.193091320_193091321insT - CDC73_000027 - - - - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.-11_-10insT r.(=) p.(=)
3 Parent #2 ./. g.37067096_37067103del - MLH1_000058 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
4 Parent #2 ./. g.55604597T>A - KIT_000013 rs72549296 - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2805T>A, NM_001093772.1:c.2793T>A r.(=) p.(=)
7 Parent #2 ./. g.148525810G>A - EZH2_000035 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.625+22C>T, NM_001203248.1:c.598+22C>T, NM_001203249.1:c.598+22C>T, NM_004456.4:c.625+22C>T, NM_152998.2:c.508+22C>T r.(=) p.(=)
8 Parent #2 ./. g.129192262C>T - chr8_000033 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.72360594G>A - PRF1_000030 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.65C>T, NM_005041.4:c.65C>T r.(?) p.(Pro22Leu)
16 Parent #2 ./. g.89851413G>A - FANCA_000128 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1360-41C>T r.(=) p.(=)
Legend