Individual #00020039

Reference -
Gender F
Geographic origin Constantinople
Geographic origin -
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     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012288 28y - - - - Despoina Kalfakakou
0000012289 33y - - - Tubular, Hyperplastic Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000690 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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     
3 Parent #2 ./. g.37067120_37067121insTTTTTTA - MLH1_000062 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-8_1039-7insTTTTTTA, NM_001167617.1:c.745-8_745-7insTTTTTTA, NM_001167618.1:c.316-8_316-7insTTTTTTA, NM_001167619.1:c.316-8_316-7insTTTTTTA, NM_001258271.1:c.1039-8_1039-7insTTTTTTA, NM_001258273.1:c.316-8_316-7insTTTTTTA, NM_001258274.1:c.316-8_316-7insTTTTTTA r.(=) p.(=)
5 Parent #2 ./. g.176636586C>G - NSD1_000044 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.1237-51C>G, NM_172349.2:c.430-51C>G r.(=) p.(=)
7 Parent #2 ./. g.116403083G>C - MET_000027 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.2365-21G>C, NM_001127500.1:c.2419-21G>C r.(=) p.(=)
8 Parent #2 ./. g.90996819G>A - NBN_000021 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.-30C>T r.(=) p.(=)
8 Parent #2 ./. g.118847632G>A - EXT1_000015 - - - - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1164+51C>T r.(=) p.(=)
8 Parent #2 ./. g.145738398C>T - RECQL4_000109 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2588G>A - p.?
8 Parent #2 ./. g.145739268_145739270del - RECQL4_000106 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2058+42_2058+44del - p.?
10 Parent #2 ./. g.88683209T>G - BMPR1A_000005 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1419T>G r.(=) p.(=)
11 Parent #2 ./. g.95532438C>T - CEP57_000016 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.61C>T, NM_001243777.1:c.88C>T, NM_014679.4:c.88C>T r.(?) p.(Arg21Trp), p.(Arg30Trp)
13 Parent #2 ./. g.48881581T>G - RB1_000015 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.264+39T>G r.(=) p.(=)
15 Parent #2 ./. g.91295105T>C - BLM_000054 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.888T>C r.(=) p.(=)
16 Parent #2 ./. g.2137951G>A - TSC2_000129 rs45445593 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+9G>A, NM_001077183.1:c.4867+9G>A, NM_001114382.1:c.4999+9G>A r.(=) p.(=)
16 Parent #2 ./. g.3639367G>A - SLX4_000061 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4272C>T r.(=) p.(=)
16 Parent #2 ./. g.14028081C>T - ERCC4_000013 rs1799802 - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1135C>T r.(?) p.(Pro379Ser)
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