Individual #00016774

Reference -
Gender F
Geographic origin Argithea, Agrafa
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     
0000009017 38y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000468 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.29456609T>C - ALK_000023 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2356-47A>G r.(=) p.(=)
2 Parent #2 -?/-? g.47601029G>C - EPCAM_000005 rs146480420 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.267G>C r.(?) p.(Gln89His)
2 Parent #2 -/- g.48032033C>T - MSH6_000017 rs192614006 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3439-16C>T, NM_001281492.1:c.3049-16C>T, NM_001281493.1:c.2533-16C>T, NM_001281494.1:c.2533-16C>T r.(=) p.(=)
2 Parent #2 ?/? g.128047101C>G - ERCC3_000005 rs4150413 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.658-24G>C r.(=) p.(=)
3 Parent #2 ?/? g.10106366T>C - FANCD2_000053 rs4019782 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2022-47T>C, NM_033084.3:c.2022-47T>C 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.(=)
7 Parent #2 ?/? g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.*10A>G r.(=) p.(=)
7 Parent #2 ?/? g.66453508A>T - SBDS_000010 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-22T>A r.(=) p.(=)
7 Parent #2 ?/? g.66453515C>A - SBDS_000009 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-29G>T r.(=) p.(=)
12 Parent #2 ?/? g.121431489G>A - HNF1A_000020 rs145240086 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.693G>A r.(=) p.(=)
19 Parent #2 ?/? g.1219459A>G - STK11_000009 - - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.464+47A>G r.(=) p.(=)
22 Parent #2 ?/? g.29091142C>T - CHEK2_000016  rs1555913429 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1477G>A, NM_001257387.1:c.685G>A, NM_007194.3:c.1348G>A, NM_145862.2:c.1261G>A r.(?) p.(Glu493Lys), p.(Glu229Lys), p.(Glu450Lys), p.(Glu421Lys)
22 Parent #2 ?/? g.29091238T>A - CHEK2_000001 rs863224747 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1389-8A>T, NM_001257387.1:c.597-8A>T, NM_007194.3:c.1260-8A>T, NM_145862.2:c.1173-8A>T r.(=) p.(=)
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