Individual #00020068

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


Phenotypes

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012329 31y - - Serrated Despoina Kalfakakou
0000012330 32y - - Hyperplastic Despoina Kalfakakou
0000012331 34y - - Hyperplastic Despoina Kalfakakou
0000012332 37y - - Serrated, Hyperplastic Despoina Kalfakakou
0000012333 38y - - Tubulovillous, Hyperplastic Despoina Kalfakakou
0000012334 39y - - Serrated, Hyperplastic Despoina Kalfakakou
0000012335 40y - - Tubular Despoina Kalfakakou
0000012336 44y - - Serrated Despoina Kalfakakou
0000012337 45y - - Hyperplastic Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000721 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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     
2 Parent #2 ?/? g.29448474T>C - ALK_000012 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3068-43A>G r.(=) p.(=)
2 Parent #2 ?/? g.233199473G>A - DIS3L2_000004 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
3 Parent #2 -/- 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.(=)
6 Parent #2 ./. g.29918139C>T - chr6_000031 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.6042129G>A - PMS2_000033 rs35311046 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.492C>T r.(=) p.(=)
7 Parent #2 ?/? g.6042143G>T - PMS2_000043 rs36038802 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.478C>A r.(?) p.(Gln160Lys)
9 Parent #2 ?/? g.98011497G>A - FANCC_000007 rs1800361 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
11 Parent #2 -/- g.22647209G>A - FANCF_000014 rs577253174 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.148C>T r.(?) p.(Arg50Trp)
12 Parent #2 -/- g.121435265C>T - HNF1A_000026 rs193922579 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1310-12C>T r.(=) p.(=)
16 Parent #2 -/- g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5260-15C>T, NM_001077183.1:c.5059-15C>T, NM_001114382.1:c.5191-15C>T r.(=) p.(=)
16 Parent #2 ?/? g.14015897A>G - ERCC4_000024 rs141591400 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.217A>G r.(?) p.(Ile73Val)
22 Parent #2 -?/-? g.29083909T>C - CHEK2_000010 rs17886242 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1737A>G, NM_001257387.1:c.945A>G, NM_007194.3:c.1608A>G, NM_145862.2:c.1521A>G r.(=) p.(=)
Legend