Individual #00016955

Reference -
Gender F
Geographic origin Mani
Geographic origin Aliartos, Boeotia
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     

BRCA/FH     

Subtype     

Owner     
0000009247 26y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000723 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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.29448384C>T - ALK_000054 rs200080181 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3115G>A r.(?) p.(Val1039Met)
2 Parent #2 ?/? g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1609G>A, NM_001128143.1:c.1492G>A, NM_001128144.1:c.1609G>A r.(?) p.(Glu537Lys), p.(Glu498Lys)
3 Parent #2 ?/? g.10106386A>G - FANCD2_000005 rs4019783 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2022-27A>G, NM_033084.3:c.2022-27A>G r.(=) p.(=)
3 Parent #2 ?/? g.10107193C>T - FANCD2_000083 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2269+15C>T, NM_033084.3:c.2269+15C>T r.(=) p.(=)
11 Parent #2 ?/? g.64577587C>T - MEN1_000020 - - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.-6G>A, NM_130799.2:c.-6G>A, NM_130800.2:c.-6G>A, NM_130801.2:c.-6G>A, NM_130802.2:c.-6G>A, NM_130803.2:c.-6G>A, NM_130804.2:c.-6G>A r.(=) p.(=)
15 Parent #2 -/- g.89838176T>G - FANCI_000010 rs145762491 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2487T>G, NM_018193.2:c.2456+948T>G r.(=) p.(=)
16 Parent #2 ?/? g.2112638G>T - TSC2_000147 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1361+37G>T, NM_001077183.1:c.1361+37G>T, NM_001114382.1:c.1361+37G>T r.(=) p.(=)
16 Parent #2 -/- g.2114422C>T - TSC2_000048 rs45517180 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1593C>T, NM_001077183.1:c.1593C>T, NM_001114382.1:c.1593C>T r.(=) p.(=)
17 Parent #2 ?/? g.29554652G>A - NF1_000155 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2409+28G>A, NM_001042492.2:c.2409+28G>A, NM_001128147.2:c.*5644G>A r.(=) p.(=)
17 Parent #2 -?/-? g.29556201C>G - NF1_000006 rs1257258707 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
17 Parent #2 ?/? g.56772592_56772593del - RAD51C_000020 - - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.*38_*39del, NM_058216.2:c.404+42_404+43del r.(=) p.(=)
17 Parent #2 +/+ g.56780562C>T - RAD51C_000005 rs200293302 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.577C>T r.(?) p.(Arg193*)
19 Parent #2 ?/? g.45867668G>A - ERCC2_000013 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.718+14C>T, NM_001130867.1:c.646+14C>T r.(=) p.(=)
22 Parent #2 -?/-? g.29083909T>C - CHEK2_000010 rs17886242 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1737A>G, NM_001257387.1:c.945A>G, NM_007194.3:c.1608A>G, NM_145862.2:c.1521A>G r.(=) p.(=)
22 Parent #2 ?/? g.29083951G>A - CHEK2_000036 rs202104749 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1695C>T, NM_001257387.1:c.903C>T, NM_007194.3:c.1566C>T, NM_145862.2:c.1479C>T r.(=) p.(=)
22 Parent #2 ?/? g.29120915T>A - CHEK2_000004 rs17881298 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.721+50A>T, NM_001257387.1:c.-186+50A>T, NM_007194.3:c.592+50A>T, NM_145862.2:c.592+50A>T r.(=) p.(=)
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