Individual #00019706

Reference -
Gender M
Geographic origin Agriani, Serres
Geographic origin Gazoros, Serres
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     
0000011927 52y - - Yes No No - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000011926 49y - - Tubular Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000379 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
1 Parent #2 +/+ g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145G>A, NM_001048172.1:c.1106G>A, NM_001048173.1:c.1103G>A, NM_001048174.1:c.1103G>A, NM_001128425.1:c.1187G>A, NM_012222.2:c.1178G>A r.(?) p.(Gly382Asp), p.(Gly369Asp), p.(Gly368Asp), p.(Gly396Asp), p.(Gly393Asp)
2 Parent #2 ?/? g.128017009C>T - ERCC3_000009 rs151216904 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2080G>A r.(?) p.(Ala694Thr)
9 Parent #2 ./. g.5070882G>C - chr9_000010 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ?/? g.100447368C>T - XPA_000002 - - Germline - - - - Despoina Kalfakakou XPA - NM_000380.3:c.556-46G>A r.(=) p.(=)
11 Parent #2 ?/? g.108178650T>C - ATM_000068 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5701T>C r.(=) p.(=)
13 Parent #2 ?/? g.32906364A>G - BRCA2_000072 - - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.794-45A>G r.(=) p.(=)
13 Parent #2 -/- g.103528048C>T - ERCC5_000032 rs2227871 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.3356C>T r.(?) p.(Ala1119Val)
17 Parent #2 -/- g.29554205A>T - NF1_000016 rs141082540 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2252-31A>T, NM_001042492.2:c.2252-31A>T, NM_001128147.2:c.*5197A>T r.(=) p.(=)
17 Parent #2 ?/? g.29556250C>T - NF1_000075 rs199474739 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2617C>T, NM_001042492.2:c.2617C>T r.(?) p.(Arg873Cys)
Legend