Individual #00017977

Reference -
Gender F
Geographic origin Serres
Geographic origin Arta
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     
0000010852 35y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002217 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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     
3 Parent #2 ?/? g.14219932G>C - XPC_000010 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.103+34C>G, NM_004628.4:c.103+34C>G 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.(=)
6 Parent #2 ?/? g.35424008_35424010del - FANCE_000008 rs45451605 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.733_735del r.(?) p.(Gly246del)
7 Parent #2 -?/-? g.6026827G>C - PMS2_000024 rs141458772 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1569C>G r.(=) p.(=)
9 Parent #2 ?/? g.35075062C>T - FANCG_000036 - - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1498G>A r.(?) p.(Glu500Lys)
10 Parent #2 -?/-? g.43600608C>T - RET_000107 rs41306550 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.834C>T, NM_020975.4:c.834C>T r.(=) p.(=)
11 Parent #2 ?/? g.44129782A>C - EXT2_000023 rs111589746 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.619A>C, NM_001178083.1:c.520A>C, NM_207122.1:c.520A>C r.(?) p.(Met207Leu), p.(Met174Leu)
11 Parent #2 -?/-? g.47259728G>A - DDB2_000004 rs143049891 - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.1228G>A r.(?) p.(Ala410Thr)
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
13 Parent #2 -/- g.32910430C>T - BRCA2_000117 rs28897711 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1938C>T r.(=) p.(=)
21 Parent #2 -/- g.36259347G>A - RUNX1_000003 rs147889692 - Germline - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.63C>T, NM_001122607.1:c.63C>T, NM_001754.4:c.144C>T r.(=) p.(=)
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