Individual #00020704

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


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001354 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
7 Parent #2 ?/? g.55269520A>G - EGFR_000009 rs41446045 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
11 Parent #2 ?/? g.108190688G>T - ATM_000165 rs1266938537 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6355G>T r.(?) p.(Val2119Leu)
13 Parent #2 -?/-? g.32893271A>G - BRCA2_000087 rs4987046 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.125A>G r.(?) p.(Tyr42Cys)
13 Parent #2 ?/? g.32906957C>T - BRCA2_000186 rs80358422 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1342C>T r.(?) p.(Arg448Cys)
13 Parent #2 -/- g.32972760G>A - BRCA2_000097 rs28897762 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10110G>A r.(=) p.(=)
16 Parent #2 +/+ g.2115519del - TSC2_000232 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1600-1del, NM_001077183.1:c.1600-1del, NM_001114382.1:c.1600-1del r.(=) p.(=)
16 Parent #2 -?/-? g.2115609C>T - TSC2_000233 rs779858018 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1689C>T, NM_001077183.1:c.1689C>T, NM_001114382.1:c.1689C>T r.(=) p.(=)
16 Parent #2 ?/? g.50825440T>C - CYLD_000001 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2100-29T>C, NM_001042412.1:c.2100-29T>C, NM_015247.2:c.2109-29T>C r.(=) p.(=)
17 Parent #2 +/+ g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.181T>G, NM_007297.3:c.40T>G, NM_007298.3:c.181T>G, NM_007299.3:c.181T>G, NM_007300.3:c.181T>G r.(?) p.(Cys61Gly), p.(Cys14Gly)
17 Parent #2 -/- g.56772344A>G - RAD51C_000029 rs28897700 - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.198A>G, NM_058216.2:c.198A>G r.(=) p.(=)
22 Parent #2 +?/+? g.29121087A>G - CHEK2_000007 rs17879961 Low risk allele Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.599T>C, NM_001257387.1:c.-308T>C, NM_007194.3:c.470T>C, NM_145862.2:c.470T>C r.(=), r.(?) p.(Ile200Thr), p.(=), p.(Ile157Thr)
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