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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009929 43y - - Medullary N/A III N/A Negative Negative Negative - - - 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 - - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
14 Parent #2 ./. g.45623851T>G - FANCM_000014 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1184-49T>G r.(=) p.(=)
14 Parent #2 ./. g.95569761C>T - DICER1_000015 rs45562437 - - - - - - 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 - - - - - - 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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