Individual #00016397

Reference -
Gender F
Geographic origin Karditsa
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     
0000008450 84y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000113 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     
1 Parent #2 ./. g.193094311G>A - CDC73_000001 - - - - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.201G>A r.(=) p.(=)
3 Parent #2 ./. g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.377+35C>T, NM_033084.3:c.377+35C>T r.(=) p.(=)
5 Parent #2 ./. g.112116450C>T - APC_000013 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.532-37C>T, NM_001127510.2:c.532-37C>T, NM_001127511.2:c.562-37C>T r.(=) p.(=)
6 Parent #2 ./. g.35420304G>C - FANCE_000006 rs13215706 - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
7 Parent #2 ./. g.6043613G>A - PMS2_000016 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.240C>T r.(=) p.(=)
7 Parent #2 ./. g.55210990C>G - EGFR_000013 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.241-8C>G, NM_201282.1:c.241-8C>G, NM_201283.1:c.241-8C>G, NM_201284.1:c.241-8C>G r.(=) p.(=)
7 Parent #2 ./. g.148513904C>T - EZH2_000005 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.1396-34G>A, NM_001203248.1:c.1369-34G>A, NM_001203249.1:c.1369-34G>A, NM_004456.4:c.1411-34G>A, NM_152998.2:c.1279-34G>A r.(=) p.(=)
8 Parent #2 ./. g.30946411T>A - WRN_000004 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1582T>A r.(?) p.(Leu528Met)
12 Parent #2 ./. g.121434317C>T - HNF1A_000001 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
17 Parent #2 ./. g.17124933C>T - FLCN_000002 - - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.789G>A, NM_144997.5:c.789G>A r.(=) p.(=)
Legend