Individual #00020896

Reference -
Gender M
Geographic origin Kavala
Geographic origin Paphos, Cyprus
Population Greek
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     
0000012752 7y Glioma, Anaplastic Oligoastrocytoma - - III - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001566 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.47613768A>G - EPCAM_000008 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.*16A>G r.(=) p.(=)
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.(=)
3 Parent #2 ./. g.14206917G>A - XPC_000044 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.668+11C>T, NM_004628.4:c.779+11C>T r.(=) p.(=)
7 Parent #2 ./. g.55238941G>A - EGFR_000004 rs17290246 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
10 Parent #2 ./. g.43600379C>T - RET_000079 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.626-21C>T, NM_020975.4:c.626-21C>T r.(=) p.(=)
10 Parent #2 ./. g.43602066G>A - RET_000052 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.1063+47G>A, NM_020975.4:c.1063+47G>A r.(=) p.(=)
10 Parent #2 ./. g.72360140C>T - PRF1_000005 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.519G>A, NM_005041.4:c.519G>A r.(=) p.(=)
10 Parent #2 ./. g.72360291C>T - PRF1_000006 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.368G>A, NM_005041.4:c.368G>A r.(?) p.(Arg123His)
11 Parent #2 ./. g.22646984C>T - FANCF_000001 rs61752920 - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
11 Parent #2 ./. g.108201108T>G - ATM_000003 rs56399857 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
16 Parent #2 ./. g.89813346C>T - FANCA_000037 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3349-48G>A r.(=) p.(=)
Legend