Individual #00020038

Reference -
Gender M
Geographic origin Trikeri, Volos
Geographic origin Volos
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ColPol, CRC
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     
0000012285 31y - - Yes No No - Despoina Kalfakakou
0000012287 35y - - Yes No No - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012286 32y - - Tubular, Hyperplastic Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000688 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
3 Parent #2 ./. g.114362805T>C - chr3_000005 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -?/-? g.89653834C>T - PTEN_000006 rs150651961 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>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.108202772G>T - ATM_000073 rs112775908 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7788+8G>T r.(=) p.(=)
15 Parent #2 -?/-? g.89825056A>G - FANCI_000018 rs144908351 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1573A>G, NM_018193.2:c.1573A>G r.(?) p.(Met525Val)
16 Parent #2 -/- g.2133701G>A - TSC2_000071 rs45517319 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3889G>A, NM_001077183.1:c.3688G>A, NM_001114382.1:c.3820G>A r.(?) p.(Ala1297Thr), p.(Ala1230Thr), p.(Ala1274Thr)
16 Parent #2 ?/? g.3633544C>T - SLX4_000059 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4740-33G>A r.(=) p.(=)
16 Parent #2 ?/? g.3658703_3658705del - SLX4_000057 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.261_263del r.(?) p.(Arg87del)
16 Parent #2 ?/? g.89882442G>C - FANCA_000086 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.80-48C>G, NM_001018112.1:c.80-48C>G r.(=) p.(=)
22 Parent #2 ?/? g.24145459T>G - SMARCB1_000006 - - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.474-23T>G, NM_003073.3:c.501-23T>G r.(=) p.(=)
22 Parent #2 ?/? g.30050619C>T - NF2_000022 - - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.448-27C>T, NM_016418.5:c.448-27C>T, NM_181825.2:c.448-27C>T, NM_181828.2:c.322-27C>T, NM_181829.2:c.325-27C>T, NM_181830.2:c.199-27C>T, NM_181831.2:c.199-27C>T, NM_181832.2:c.448-27C>T, NM_181833.2:c.447+12345C>T r.(=) p.(=)
Legend