Individual #00017943

Reference -
Gender F
Geographic origin Vagia, Thebes
Geographic origin Ioannina
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     
0000010785 43y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002111 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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.30143420G>A - ALK_000027 rs201490095 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.106C>T r.(?) p.(Pro36Ser)
2 Parent #2 ?/? g.190728524G>A - PMS1_000058 - - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1912G>A, NM_001128143.1:c.1795G>A, NM_001128144.1:c.1857-4001G>A r.(?), r.(=) p.(Ala638Thr), p.(Ala599Thr), p.(=)
2 Parent #2 ?/? g.190728586C>T - PMS1_000059 - - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1974C>T, NM_001128143.1:c.1857C>T, NM_001128144.1:c.1857-3939C>T r.(=) p.(=)
8 Parent #2 ?/? g.145742533A>C - RECQL4_000210 rs1163167976 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.255T>G - p.?
11 Parent #2 ?/? g.47259398A>T - DDB2_000026 - - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.1034A>T r.(?) p.(His345Leu)
11 Parent #2 ?/? g.64575067A>G - MEN1_000034 - - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.755T>C, NM_130799.2:c.740T>C, NM_130800.2:c.755T>C, NM_130801.2:c.755T>C, NM_130802.2:c.755T>C, NM_130803.2:c.755T>C, NM_130804.2:c.755T>C r.(?) p.(Ile252Thr), p.(Ile247Thr)
11 Parent #2 -?/-? g.108151707_108151708insTA - ATM_000093 rs1555091084 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-15_3403-14insTA r.(=) p.(=)
16 Parent #2 ?/? g.3639789C>T - SLX4_000161 rs373107728 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3850G>A r.(?) p.(Val1284Met)
17 Parent #2 ?/? g.29587370A>T - NF1_000196 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4368-17A>T, NM_001042492.2:c.4431-17A>T r.(=) p.(=)
22 Parent #2 -?/-? g.29121077T>C - CHEK2_000006 rs575910805 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.609A>G, NM_001257387.1:c.-298A>G, NM_007194.3:c.480A>G, NM_145862.2:c.480A>G r.(=), r.(?) p.(Ile203Met), p.(=), p.(Ile160Met)
X Parent #2 ?/? g.14883671A>G - FANCB_000030 - - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.-39T>C, NM_152633.2:c.-39T>C r.(=) p.(=)
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