Individual #00017071

Reference -
Gender F
Geographic origin Patra
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 6
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     
0000009413 37y - - - - Despoina Kalfakakou
0000009414 37y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000800 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.190719060C>T - PMS1_000033 - - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1062C>T, NM_001128143.1:c.945C>T, NM_001128144.1:c.1062C>T r.(=) p.(=)
3 Parent #2 -/- g.52439240T>C - BAP1_000002 rs28997577 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1002A>G r.(=) p.(=)
8 Parent #2 ?/? g.90983460G>A - NBN_000017 rs34767364 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.643C>T r.(?) p.(Arg215Trp)
9 Parent #2 ./. g.5070872del - chr9_000007 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 -?/-? g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4324C>T, NM_001083602.1:c.4126C>T, NM_001083603.1:c.4321C>T, NM_001083604.1:c.3871C>T, NM_001083605.1:c.3871C>T, NM_001083606.1:c.3871C>T, NM_001083607.1:c.3871C>T r.(?) p.(Arg1442Trp), p.(Arg1376Trp), p.(Arg1441Trp), p.(Arg1291Trp)
13 Parent #2 -/- g.32907401G>C - BRCA2_000115 rs56328701 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1786G>C r.(?) p.(Asp596His)
14 Parent #2 ?/? g.95557326G>A - DICER1_000028 - - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.5440+45C>T, NM_001271282.1:c.5603+45C>T, NM_030621.3:c.5603+45C>T, NM_177438.2:c.5603+45C>T r.(=) p.(=)
15 Parent #2 ?/? g.40501994C>T - BUB1B_000035 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2284+18C>T r.(=) p.(=)
15 Parent #1 ?/? g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+42_975+43insG, NM_018193.2:c.975+42_975+43insG r.(=) p.(=)
15 Parent #2 ?/? g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+43del, NM_018193.2:c.975+43del r.(=) p.(=)
16 Parent #2 -/- g.2134508G>T - TSC2_000074 rs45474795 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4285G>T, NM_001077183.1:c.4084G>T, NM_001114382.1:c.4216G>T r.(?) p.(Ala1429Ser), p.(Ala1362Ser), p.(Ala1406Ser)
16 Parent #2 -?/-? g.3656645A>G - SLX4_000008 rs147826749 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.590T>C r.(?) p.(Val197Ala)
16 Parent #2 -?/-? g.23634273A>G - PALB2_000009 rs180177128 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2996+17T>C r.(=) p.(=)
16 Parent #2 +/+ g.23637553_23637558del - PALB2_000025 rs786203892 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2747_2748+4del r.spl? p.?
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