Individual #00020073

Reference -
Gender M
Geographic origin Arta
Geographic origin Corfu
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases Polyposis
Owner name Despoina Kalfakakou


Phenotypes

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012345 42y - - - Adenomatous, Tubular Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000727 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     
2 Parent #2 ./. g.47600655C>T - EPCAM_000021 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.130C>T r.(?) p.(Arg44Cys)
2 Parent #2 ./. g.48033829C>G - MSH6_000004 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.4001+39C>G, NM_001281492.1:c.3611+39C>G, NM_001281493.1:c.3095+39C>G, NM_001281494.1:c.3095+39C>G r.(=) p.(=)
2 Parent #2 ./. g.128046416G>A - ERCC3_000033 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.847C>T r.(?) p.(Arg283Cys)
2 Parent #2 ./. g.233199422G>A - DIS3L2_000054 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8633G>A, NM_152383.4:c.2371G>A r.(=), r.(?) p.(=), p.(Val791Met)
3 Parent #2 ./. g.10127470A>T - FANCD2_000033 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3225-26A>T, NM_033084.3:c.3225-26A>T r.(=) p.(=)
3 Parent #2 ./. g.37067096_37067103del - MLH1_000058 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 ./. g.55604597T>A - KIT_000013 rs72549296 - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2805T>A, NM_001093772.1:c.2793T>A r.(=) p.(=)
5 Parent #2 ./. g.112174152T>G - APC_000060 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.2861T>G, NM_001127510.2:c.2861T>G, NM_001127511.2:c.2807T>G r.(?) p.(Leu954*), p.(Leu936*)
7 Parent #2 ./. g.6045488T>G - PMS2_000057 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.163+35A>C r.(=) p.(=)
10 Parent #2 ./. g.72358477C>T - PRF1_000002 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1000G>A, NM_005041.4:c.1000G>A r.(?) p.(Gly334Ser)
10 Parent #2 ./. g.88683281C>T - BMPR1A_000018 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1473+18C>T r.(=) p.(=)
10 Parent #2 ./. g.104359297G>T - SUFU_000001 rs34135067 - - - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1018G>T, NM_016169.3:c.1018G>T r.(?) p.(Ala340Ser)
13 Parent #2 ./. g.32954037A>C - BRCA2_000067 rs80359165 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9104A>C r.(?) p.(Tyr3035Ser)
15 Parent #2 ./. g.91293335G>A - BLM_000057 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.799+38G>A r.(=) p.(=)
19 Parent #2 ./. g.45855456G>T - ERCC2_000049 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2190+11C>A r.(=) p.(=)
19 Parent #2 ./. g.45855590_45855591insT - ERCC2_000048 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2066_2067insA r.(?) p.(Arg690Alafs*84)
Legend