Individual #00020747

Reference -
Gender M
Geographic origin Parga, Preveza
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 5
Diseases CAL, GIST
Owner name Despoina Kalfakakou


Phenotypes

Gastrointestinal stromal tumor (GIST)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012500 36y - - - - Despoina Kalfakakou

Café au Lait spots (CAL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012499 0y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001380 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
7 Parent #2 ./. g.50466323C>T - chr7_000002 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.55238883T>G - EGFR_000065 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1896T>G, NM_201282.1:c.*2661T>G, NM_201284.1:c.*646T>G r.(=) p.(=)
8 Parent #2 ./. g.118811903T>A - EXT1_000003 - - - - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.*48A>T r.(=) p.(=)
13 Parent #2 ./. g.32912750G>T - BRCA2_000026 rs28897727 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4258G>T r.(?) p.(Asp1420Tyr)
15 Parent #2 ./. g.40477447A>G - BUB1B_000026 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.833A>G r.(?) p.(Asn278Ser)
16 Parent #2 ./. g.3658876G>A - SLX4_000010 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
17 Parent #2 ./. g.29490296_29490297del - NF1_000243 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.381_382del, NM_001042492.2:c.381_382del, NM_001128147.2:c.381_382del r.(?) p.(Asn128Profs*5)
17 Both (homozygous) ./. g.29563085_29563086insTG - NF1_000027 rs56874702 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3974+46_3974+47insTG, NM_001042492.2:c.3974+46_3974+47insTG r.(=) p.(=)
17 Parent #2 ./. g.56809948C>T - RAD51C_000030 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.1026+43C>T r.(=) p.(=)
Legend