Individual #00020837

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


Phenotypes

Brain Cancer (BrainCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012650 4y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001520 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.55268044C>T - EGFR_000001 rs17337451 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2884C>T r.(?) p.(Arg962Cys)
8 Parent #2 ?/? g.145736803A>G - RECQL4_000077 rs200068546 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.*11T>C - p.?
10 Parent #2 ./. g.107516341A>C - chr10_000015 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.32417962A>G - WT1_000001 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.1048-9T>C, NM_001198551.1:c.463-9T>C, NM_001198552.1:c.412-9T>C, NM_024424.3:c.1099-9T>C, NM_024426.4:c.1099-9T>C r.(=) p.(=)
11 Parent #2 ./. g.89011045C>T - chr11_000020 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 -/- g.32906766C>T - BRCA2_000031 rs41293475 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1151C>T r.(?) p.(Ser384Phe)
13 Parent #2 ?/? g.49039095_49039096del - RB1_000004 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39_2212-38del r.(=) p.(=)
13 Parent #1 ?/? g.49039096dup - RB1_000005 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-38dup r.(=) p.(=)
15 Parent #2 ?/? g.91334124T>G - BLM_000063 - - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3019+50T>G r.(=) p.(=)
17 Parent #2 -/- g.74470523G>A - RHBDF2_000005 rs143503813 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1396C>T, NM_024599.5:c.1483C>T r.(?) p.(Arg466Trp), p.(Arg495Trp)
Legend