Individual #00020460

Reference -
Gender M
Geographic origin Agrafa
Geographic origin Thrace
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases HNSCC, PrCa
Owner name Despoina Kalfakakou


Phenotypes

Prostate cancer (PrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Gleason     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012688 72y - - - 10 - - - - Despoina Kalfakakou

Head and Neck Cancer (HNSCC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Histology     

Stage     

Subtype     

Owner     
0000012687 66y Epiglottis - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001540 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.233028241C>T - DIS3L2_000010 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1023C>T, NM_152383.4:c.1023C>T r.(=) p.(=)
2 Parent #2 ./. g.233195514C>G - DIS3L2_000013 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12541C>G, NM_152383.4:c.2010+28C>G r.(=) p.(=)
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.(=)
11 Parent #2 ./. g.22647116C>A - FANCF_000002 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ./. g.2108755A>G - TSC2_000260 rs1800748 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.856A>G, NM_001077183.1:c.856A>G, NM_001114382.1:c.856A>G r.(?) p.(Met286Val)
17 Parent #2 ./. g.17119838C>T - FLCN_000011 - - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*4855G>A, NM_144997.5:c.1177-21G>A r.(=) p.(=)
17 Parent #2 ./. g.41243844_41243848del - BRCA1_000046 rs80357609 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3700_3704del, NM_007297.3:c.3559_3563del, NM_007298.3:c.788-799_788-795del, NM_007299.3:c.788-799_788-795del, NM_007300.3:c.3700_3704del r.(?), r.(=) p.(Val1234Glnfs*8), p.(Val1187Glnfs*8), p.(=)
Legend