Individual #00020957

Reference -
Gender M
Geographic origin Chania, Crete
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ColPol, PNCA2
Owner name Despoina Kalfakakou


Phenotypes

Pancreatic cancer 2 (PNCA2)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012909 64y - - - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012908 68y - - Tubular Despoina Kalfakakou
0000012910 48y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001615 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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.29473926C>A - ALK_000052 rs13405107 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2204+45G>T r.(=) p.(=)
2 Parent #2 -/- g.233201353G>A - DIS3L2_000027 rs200467865 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-6702G>A, NM_152383.4:c.*13G>A r.(=) p.(=)
2 Parent #2 ./. g.242371116T>C - chr2_000015 - - - - - - - Despoina Kalfakakou - - - -
3 Both (homozygous) -/- g.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
3 Parent #2 ?/? g.10094195T>A - FANCD2_000011 rs200473919 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A 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.6022481G>A - PMS2_000015 rs748404138 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2148C>T r.(=) p.(=)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
8 Parent #2 +/+ g.30948373C>T - WRN_000095 rs757808169 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1744C>T r.(?) p.(Gln582*)
11 Parent #2 -?/-? g.108196837G>C - ATM_000187 rs1800061 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6860G>C r.(?) p.(Gly2287Ala)
15 Parent #2 ?/? g.89801904C>G - FANCI_000111 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.85-31C>G, NM_018193.2:c.85-31C>G r.(=) p.(=)
15 Parent #2 ?/? g.89802032G>C - FANCI_000112 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.157+25G>C, NM_018193.2:c.157+25G>C r.(=) p.(=)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.29562897G>A - NF1_000051 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3871-39G>A, NM_001042492.2:c.3871-39G>A r.(=) p.(=)
17 Parent #2 ./. g.58740546T>A - chr17_000025 - - - - - - - Despoina Kalfakakou PPM1D - NM_003620.3:c.1451T>A r.(?) p.(Leu484*)
Legend