Individual #00016966

Reference -
Gender F
Geographic origin Kavasida, Elis
Geographic origin Nafpaktos
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     
0000009262 58y - - - - Despoina Kalfakakou
0000009263 44y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000736 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.233127938C>G - DIS3L2_000056 rs186865544 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1447C>G, NM_152383.4:c.1447C>G r.(?) p.(Arg483Gly)
2 Parent #2 ?/? g.233164859T>C - DIS3L2_000055 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1581+36787T>C, NM_152383.4:c.1739+30T>C r.(=) p.(=)
5 Parent #2 ?/? g.112176209C>T - APC_000038 rs373440614 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.4918C>T, NM_001127510.2:c.4918C>T, NM_001127511.2:c.4864C>T r.(?) p.(Arg1640Trp), p.(Arg1622Trp)
7 Parent #2 ?/? g.116417444G>A - MET_000031 rs1422966258 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.3261G>A, NM_001127500.1:c.3315G>A r.(=) p.(=)
9 Parent #2 -/- g.97912307T>A - FANCC_000001 rs1800365 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.584A>T, NM_001243743.1:c.584A>T, NM_001243744.1:c.584A>T r.(?) p.(Asp195Val)
9 Parent #2 ?/? g.100459562C>A - XPA_000014 rs574504791 - Germline - - - - Despoina Kalfakakou XPA - NM_000380.3:c.13G>T r.(?) p.(Asp5Tyr)
11 Parent #2 -/- g.44146484C>T - EXT2_000031 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.988C>T, NM_001178083.1:c.889C>T, NM_207122.1:c.889C>T r.(?) p.(Arg330Cys), p.(Arg297Cys)
11 Parent #2 ?/? g.95532375A>G - CEP57_000005 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.19-21A>G, NM_001243777.1:c.46-21A>G, NM_014679.4:c.46-21A>G 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.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.65544802C>A - MAX_000006 - - Germline - - - - Despoina Kalfakakou MAX - NM_001271069.1:c.144+15624G>T, NM_002382.4:c.172-48G>T, NM_145112.2:c.145-48G>T, NM_145113.2:c.172-48G>T, NM_197957.3:c.171+15624G>T r.(=) p.(=)
16 Parent #2 -/- g.3640715G>A - SLX4_000018 rs114472821 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
17 Parent #2 ?/? g.66519971C>A - PRKAR1A_000018 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.440+14C>A, NM_001276290.1:c.440+14C>A, NM_002734.4:c.440+14C>A, NM_212471.2:c.440+14C>A, NM_212472.2:c.440+14C>A r.(=) p.(=)
19 Parent #2 -?/-? g.1226529A>G - STK11_000001 rs370207155 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.1185A>G r.(=) p.(=)
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