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     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012688 72y - - - Despoina Kalfakakou

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

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012687 66y - - - 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.
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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     
2 Parent #2 -?/-? g.233028241C>T - DIS3L2_000010 rs201122747 - Germline - - - - 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 - - Germline - - - - 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 - Germline - - - - 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 rs145057187 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 -/- g.2108755A>G - TSC2_000260 rs1800748 - Germline - - - - 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 rs150687840 - Germline - - - - 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 - Germline - - - - 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.(=)
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