Individual #00017458

Reference -
Gender F
Geographic origin Trikala, Corinth
Geographic origin Pyrgos, Elis
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     
0000009929 43y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001120 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
1 Parent #2 -?/-? g.45800190C>T - MUTYH_000003 rs780029247 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.37-7G>A, NM_001048172.1:c.-6-7G>A, NM_001048173.1:c.-6-7G>A, NM_001048174.1:c.-6-7G>A, NM_001128425.1:c.37-7G>A, NM_012222.2:c.37-7G>A r.(=) p.(=)
2 Parent #2 -/- g.48027755T>C - MSH6_000008 rs2020912 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
2 Parent #2 ?/? g.48033755A>T - MSH6_000062 rs1064794745 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3966A>T, NM_001281492.1:c.3576A>T, NM_001281493.1:c.3060A>T, NM_001281494.1:c.3060A>T r.(?) p.(Glu1322Asp), p.(Glu1192Asp), p.(Glu1020Asp)
3 Parent #2 ?/? g.10107147C>T - FANCD2_000088 rs35817402 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2238C>T, NM_033084.3:c.2238C>T r.(=) p.(=)
5 Parent #2 -/- g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.933+30A>G, NM_001127510.2:c.933+30A>G, NM_001127511.2:c.879+30A>G r.(=) p.(=)
5 Parent #2 ?/? g.112175240G>C - APC_000031 rs1801166 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.3949G>C, NM_001127510.2:c.3949G>C, NM_001127511.2:c.3895G>C r.(?) p.(Glu1317Gln), p.(Glu1299Gln)
5 Parent #2 -/- g.112176556G>A - APC_000006 rs34506289 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.5265G>A, NM_001127510.2:c.5265G>A, NM_001127511.2:c.5211G>A r.(=) p.(=)
9 Parent #2 ?/? g.97897704T>C - FANCC_000029 - - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.767A>G, NM_001243743.1:c.767A>G, NM_001243744.1:c.767A>G r.(?) p.(His256Arg)
10 Parent #2 ./. g.63752144G>T - chr10_000030 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
14 Parent #2 ?/? g.45623851T>G - FANCM_000014 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1184-49T>G r.(=) p.(=)
14 Parent #2 -?/-? g.95569761C>T - DICER1_000015 rs45562437 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.3972G>A, NM_001271282.1:c.3972G>A, NM_030621.3:c.3972G>A, NM_177438.2:c.3972G>A r.(=) p.(=)
17 Parent #2 -/- g.41243509T>C - BRCA1_000035 rs28897689 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4039A>G, NM_007297.3:c.3898A>G, NM_007298.3:c.788-460A>G, NM_007299.3:c.788-460A>G, NM_007300.3:c.4039A>G r.(?), r.(=) p.(Arg1347Gly), p.(Arg1300Gly), p.(=)
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