Individual #00020060

Reference -
Gender M
Geographic origin Santorini
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ColPol, CRC, GC
Owner name Despoina Kalfakakou


Phenotypes

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subcategory     

Histology     

Grade     

Stage     

LN     

MSI     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012315 58y - - Left Side - II - - - Yes Yes No Ulcerative Despoina Kalfakakou
0000012318 61y - - N/A - II - Negative High Yes Yes No - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012316 59y - - - Tubulovillous Despoina Kalfakakou

Gastric Cancer (GC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012317 60y - - - II Negative - - Tubular, Papillary Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000710 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.29543699G>A - ALK_000018 rs56165377 - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1464C>T r.(=) p.(=)
2 Parent #2 ./. g.47703538C>T - MSH2_000044 rs63749932 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2038C>T, NM_001258281.1:c.1840C>T r.(?) p.(Arg680*), p.(Arg614*)
3 Parent #2 ./. g.10115018C>T - FANCD2_000071 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2687C>T, NM_033084.3:c.2687C>T r.(?) p.(Thr896Met)
9 Parent #2 ./. g.97912307T>A - FANCC_000001 rs1800365 - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.584A>T, NM_001243743.1:c.584A>T, NM_001243744.1:c.584A>T r.(?) p.(Asp195Val)
9 Parent #2 ./. g.100459596T>C - XPA_000010 - - - - - - - Despoina Kalfakakou XPA - NM_000380.3:c.-22A>G r.(=) p.(=)
13 Parent #2 ./. g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ./. g.48953701C>T - RB1_000010 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1333-29C>T r.(=) p.(=)
13 Parent #2 ./. g.48954240_48954241insA - RB1_000033 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1421+20_1421+21insA r.(=) p.(=)
13 Parent #2 ./. g.49050826G>A - RB1_000001 rs4151624 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
14 Parent #2 ./. g.45645949C>T - FANCM_000050 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.3992C>T r.(?) p.(Pro1331Leu)
15 Parent #2 ./. g.89850836T>C - FANCI_000003 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3592-8T>C, NM_018193.2:c.3412-8T>C r.(=) p.(=)
17 Parent #2 ./. g.74475305C>A - RHBDF2_000020 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.327G>T, NM_024599.5:c.414G>T r.(?) p.(Gln109His), p.(Gln138His)
Legend