Individual #00019831

Reference -
Gender M
Geographic origin Messene, Messenia
Geographic origin Armenia
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ColPol, Polyposis
Owner name Despoina Kalfakakou


Phenotypes

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012047 52y - - - Tubulovillous Despoina Kalfakakou
0000012048 52y - - - - Despoina Kalfakakou

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012046 50y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000494 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou



Variants

17 entries on 1 page. Showing entries 1 - 17.
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.241682950C>T - FH_000016 - - - - - - - Despoina Kalfakakou FH - NM_000143.3:c.73G>A r.(?) p.(Ala25Thr)
2 Parent #2 ./. g.48032717T>A - MSH6_000003 - - - - - - - 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.(=)
2 Parent #2 ./. g.111797432C>T - chr2_000011 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ./. g.37045863C>A - MLH1_000021 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 ./. g.37048579A>G - MLH1_000018 rs4647246 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
4 Parent #2 ./. g.55598062T>C - KIT_000031 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2259T>C, NM_001093772.1:c.2247T>C r.(=) p.(=)
6 Parent #2 ./. g.35420577C>A - FANCE_000007 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.248+7C>A r.(=) p.(=)
8 Parent #2 ./. g.145739917T>C - RECQL4_000015 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1621-8A>G - p.?
11 Parent #2 ./. g.47260451G>A - DDB2_000009 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.*51G>A r.(=) p.(=)
11 Parent #2 ./. g.108128348del - ATM_000084 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2376+15del r.(=) p.(=)
12 Parent #2 ./. g.58143088C>T - CDK4_000009 rs2227953 - - - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.696G>A r.(=) p.(=)
12 Parent #2 ./. g.58144781T>C - CDK4_000010 rs2069501 - - - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.447A>G r.(=) p.(=)
16 Parent #2 ./. g.3644490G>A - SLX4_000047 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2124C>T r.(=) p.(=)
16 Parent #2 ./. g.89880970_89880971del - FANCA_000072 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.240_241del, NM_001018112.1:c.240_241del r.(?) p.(Cys80*)
17 Parent #2 ./. g.56798178G>T - RAD51C_000015 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.904+5G>T r.spl? p.?
17 Parent #2 ./. g.66524084C>A - PRKAR1A_000014 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.769+43C>A, NM_001276290.1:c.769+43C>A, NM_002734.4:c.769+43C>A, NM_212471.2:c.769+43C>A, NM_212472.2:c.769+43C>A r.(=) p.(=)
19 Parent #2 ./. g.45867799G>A - ERCC2_000031 rs1799792 - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.601C>T, NM_001130867.1:c.529C>T r.(?) p.(His201Tyr), p.(His177Tyr)
Legend