Individual #00017577

Reference -
Gender F
Geographic origin Izmir
Geographic origin Kymi
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     
0000010090 43y - - Ductal In Situ III N/A Positive Positive N/A - - - Despoina Kalfakakou
0000010091 40y - - Ductal In Situ III N/A Positive Positive N/A - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001250 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.232879736A>T - DIS3L2_000007 rs78129899 - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.52+47A>T, NM_001257282.1:c.52+47A>T, NM_152383.4:c.52+47A>T r.(=) p.(=)
2 Parent #2 ./. g.232995468T>G - DIS3L2_000014 rs75968600 - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.702+39T>G, NM_001257282.1:c.741T>G, NM_152383.4:c.702+39T>G r.(=) p.(=)
2 Parent #2 ./. g.233199477A>G - DIS3L2_000005 rs2697797 - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8578A>G, NM_152383.4:c.2394+32A>G r.(=) p.(=)
3 Parent #2 ./. g.87173319C>T - chr3_000024 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.112102859A>C - APC_000046 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.221-27A>C, NM_001127510.2:c.221-27A>C, NM_001127511.2:c.251-27A>C r.(=) p.(=)
5 Parent #2 ./. g.141681802del - chr5_000037 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.116411923C>T - MET_000014 rs34589476 - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.2908C>T, NM_001127500.1:c.2962C>T r.(?) p.(Arg970Cys), p.(Arg988Cys)
9 Parent #2 ./. g.135780990C>T - TSC1_000048 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.1975G>A, NM_001162426.1:c.1972G>A, NM_001162427.1:c.1822G>A r.(?) p.(Ala659Thr), p.(Ala658Thr), p.(Ala608Thr)
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
22 Parent #2 ./. g.29083837T>A - CHEK2_000032 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*48A>T, NM_001257387.1:c.*48A>T, NM_007194.3:c.*48A>T, NM_145862.2:c.*48A>T r.(=) p.(=)
Legend