Individual #00015273

Reference -
Gender F
Geographic origin Komotini
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     
0000011520 37y - - Ductal In Situ II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001662 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.193107338T>C - CDC73_000006 - - - - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.512+35T>C r.(=) p.(=)
2 Parent #2 ./. g.190742010C>T - PMS1_000025 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2647C>T, NM_001128143.1:c.2530C>T, NM_001128144.1:c.2161C>T r.(?) p.(Arg883Cys), p.(Arg844Cys), p.(Arg721Cys)
3 Parent #2 ./. g.37090359G>A - MLH1_000112 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1990-36G>A, NM_001167617.1:c.1696-36G>A, NM_001167618.1:c.1267-36G>A, NM_001167619.1:c.1267-36G>A, NM_001258271.1:c.1896+1185G>A, NM_001258273.1:c.1267-36G>A, NM_001258274.1:c.1267-36G>A r.(=) p.(=)
10 Parent #2 ./. g.43613908A>T - RET_000003 rs77724903 - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.2372A>T, NM_020975.4:c.2372A>T r.(?) p.(Tyr791Phe)
10 Parent #2 ./. g.51549533T>G - chr10_000002 rs41274660 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.47254345T>G - DDB2_000016 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.457-20T>G r.(=) p.(=)
16 Parent #2 ./. g.3640715G>A - SLX4_000018 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
16 Parent #2 ./. g.3645724C>T - SLX4_000019 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1925-30G>A r.(=) p.(=)
16 Parent #2 ./. g.3646275C>T - SLX4_000001 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1803G>A r.(=) p.(=)
16 Parent #2 ./. g.3646323G>A - SLX4_000002 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1755C>T r.(=) p.(=)
17 Parent #2 ./. g.29483195G>C - NF1_000021 rs17885980 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.204+51G>C, NM_001042492.2:c.204+51G>C, NM_001128147.2:c.204+51G>C r.(=) p.(=)
17 Parent #2 ./. g.56787218A>G - RAD51C_000008 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.706-2A>G r.spl? p.?
Legend