Individual #00016473

Reference -
Gender F
Geographic origin Athens
Geographic origin -
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     
0000008569 27y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000196 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     
3 Parent #2 ?/? g.37050426del - MLH1_000032 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.545+30del, NM_001167617.1:c.251+30del, NM_001167618.1:c.-179+30del, NM_001167619.1:c.-179+1872del, NM_001258271.1:c.545+30del, NM_001258273.1:c.-179+30del, NM_001258274.1:c.-179+30del r.(=) p.(=)
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
5 Parent #2 ./. g.1286477G>T - chr5_000003 rs34363858 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.29918140G>A - chr6_000018 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 -?/-? g.116422030C>G - MET_000001 rs186524917 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.3523-12C>G, NM_001127500.1:c.3577-12C>G r.(=) p.(=)
11 Parent #2 ?/? g.32439166A>C - WT1_000008 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.907T>G, NM_001198551.1:c.271T>G, NM_001198552.1:c.271T>G, NM_024424.3:c.907T>G, NM_024426.4:c.907T>G r.(?) p.(Cys303Gly), p.(Cys91Gly)
11 Parent #2 ?/? g.32456784C>G - WT1_000005 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.108G>C, NM_001198551.1:c.-4699G>C, NM_001198552.1:c.-4699G>C, NM_024424.3:c.108G>C, NM_024426.4:c.108G>C r.(=) p.(=)
11 Parent #2 ?/? g.44228529T>C - EXT2_000010 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1761+20T>C, NM_001178083.1:c.1692+20T>C, NM_207122.1:c.1662+20T>C r.(=) p.(=)
11 Parent #2 ?/? g.108098309_108098310insT - ATM_000082 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.-30-13_-30-12insT r.spl? p.?
13 Parent #2 ?/? g.48881581T>G - RB1_000015 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.264+39T>G r.(=) p.(=)
16 Parent #2 ?/? g.2127747G>T - TSC2_000063 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2966+20G>T, NM_001077183.1:c.2837+1161G>T, NM_001114382.1:c.2966+20G>T r.(=) p.(=)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
Legend