Individual #00015279

Reference -
Gender F
Geographic origin Chloi, Magnesia
Geographic origin Velestino
Population Greek
Consanguinity no
Remarks -
Panel size 4
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     
0000011538 27y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001663 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou



Variants

17 entries on 1 page. Showing entries 1 - 17.
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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     
1 Parent #2 ?/? g.45797255G>A - MUTYH_000008 rs3219490 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
7 Parent #2 ?/? g.116435923_116435926del - MET_000062 rs72070212 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.3936-18_3936-15del, NM_001127500.1:c.3990-18_3990-15del r.(=) p.(=)
9 Parent #2 ?/? g.98011497G>A - FANCC_000007 rs1800361 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
11 Parent #2 ?/? g.2905209_2905210insT - CDKN1C_000018 - - Germline - - - - Despoina Kalfakakou CDKN1C - NM_000076.2:c.*5+19_*5+20insA, NM_001122630.1:c.*5+19_*5+20insA, NM_001122631.1:c.*5+19_*5+20insA r.(=) p.(=)
13 Parent #2 -?/-? g.32893198T>A - BRCA2_000122 rs397507882 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.68-16T>A r.(=) p.(=)
13 Parent #2 +/+ g.32920967del - BRCA2_000202 rs80359628 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.6941del r.(?) p.(Thr2314Lysfs*2)
13 Parent #2 -/- g.32968810T>C - BRCA2_000013 rs11571818 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9257-16T>C r.(=) p.(=)
13 Parent #2 -/- g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9976A>T r.(?) p.(Lys3326*)
14 Parent #2 ?/? g.45650629A>G - FANCM_000026 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4223-4A>G r.spl? p.?
15 Parent #2 -?/-? g.40453436G>A - BUB1B_000020 rs374433718 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.15G>A r.(=) p.(=)
15 Parent #2 ?/? g.40477327G>T - BUB1B_000013 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.752-39G>T r.(=) p.(=)
16 Parent #2 -?/-? g.2127595A>G - TSC2_000058 rs45517272 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2838-4A>G, NM_001077183.1:c.2837+1009A>G, NM_001114382.1:c.2838-4A>G r.spl?, r.(=) p.?, p.(=)
16 Parent #2 ?/? g.50813548A>G - CYLD_000032 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.1130-28A>G, NM_001042412.1:c.1130-28A>G, NM_015247.2:c.1139-28A>G r.(=) p.(=)
17 Parent #2 ?/? g.33445677C>A - RAD51D_000023 rs7207508 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.144+453G>T, NM_002878.3:c.145-39G>T, NM_133629.2:c.144+453G>T r.(=) p.(=)
17 Parent #2 ?/? g.59763298A>C - BRIP1_000063 rs4988356 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2804T>G r.(?) p.(Val935Gly)
22 Parent #2 ?/? g.29121018C>T - CHEK2_000005 rs137853009 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.668G>A, NM_001257387.1:c.-239G>A, NM_007194.3:c.539G>A, NM_145862.2:c.539G>A r.(=), r.(?) p.(Arg223His), p.(=), p.(Arg180His)
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