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     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012650 4y Glioma - - - - - - - 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 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2884C>T r.(?) p.(Arg962Cys)
8 Parent #2 ./. g.145736803A>G - RECQL4_000077 - - - - - - - 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 rs5030274 - - - - - - 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 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1151C>T r.(?) p.(Ser384Phe)
13 Parent #2 ./. g.49039095_49039096del - RB1_000004 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39_2212-38del r.(=) p.(=)
13 Parent #1 ./. g.49039096dup - RB1_000005 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-38dup r.(=) p.(=)
15 Parent #2 ./. g.91334124T>G - BLM_000063 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3019+50T>G r.(=) p.(=)
17 Parent #2 ./. g.74470523G>A - RHBDF2_000005 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1396C>T, NM_024599.5:c.1483C>T r.(?) p.(Arg466Trp), p.(Arg495Trp)
Legend