Individual #00019921

Reference -
Gender F
Geographic origin Lagkadia, Arcadia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases ColPol, CRC, OVCA
Owner name Despoina Kalfakakou


Phenotypes

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012134 43y - - No Yes No - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000012136 47y - - - - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012135 46y - - Tubulovillous Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000564 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.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
3 Parent #2 +/+ g.37053589C>T - MLH1_000047 rs63751615 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.676C>T, NM_001167617.1:c.382C>T, NM_001167618.1:c.-48C>T, NM_001167619.1:c.-48C>T, NM_001258271.1:c.676C>T, NM_001258273.1:c.-48C>T, NM_001258274.1:c.-48C>T r.(?), r.(=) p.(Arg226*), p.(Arg128*), p.(=)
9 Parent #2 ./. g.5070872del - chr9_000007 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.32456526G>C - WT1_000003 rs1319116254 - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.366C>G, NM_001198551.1:c.-4441C>G, NM_001198552.1:c.-4441C>G, NM_024424.3:c.366C>G, NM_024426.4:c.366C>G r.(=) p.(=)
11 Parent #2 ?/? g.108181014A>G - ATM_000017 rs201963507 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5890A>G r.(?) p.(Lys1964Glu)
13 Parent #2 ?/? g.32912935_32912936insGAAACA - BRCA2_000001 rs863224826 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4443_4444insGAAACA r.(?) p.(Glu1482_Thr1483dup)
16 Parent #2 ?/? g.3645613C>T - SLX4_000049 rs200807331 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2006G>A r.(?) p.(Arg669His)
16 Parent #2 ?/? g.89813075G>A - FANCA_000080 rs143671872 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3430C>T r.(?) p.(Arg1144Trp)
17 Parent #2 -?/-? g.29508769A>G - NF1_000105 rs368691517 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.696A>G, NM_001042492.2:c.696A>G, NM_001128147.2:c.696A>G r.(=) p.(=)
17 Parent #2 -/- g.41245027G>A - BRCA1_000038 rs1800709 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.2521C>T, NM_007297.3:c.2380C>T, NM_007298.3:c.787+1734C>T, NM_007299.3:c.787+1734C>T, NM_007300.3:c.2521C>T r.(?), r.(=) p.(Arg841Trp), p.(Arg794Trp), p.(=)
19 Parent #2 ?/? g.1223150A>G - STK11_000019 rs764458789 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.1087A>G r.(?) p.(Thr363Ala)
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