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     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012752 7y - - - 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 rs147650232 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.*16A>G r.(=) p.(=)
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.(=)
3 Parent #2 ?/? g.14206917G>A - XPC_000044 - - Germline - - - - 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 - Germline - - - - 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 rs371842214 - Germline - - - - 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 - - Germline - - - - 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 rs112883709 - Germline - - - - 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 rs139336186 - Germline - - - - 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 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
11 Parent #2 ?/? g.108201108T>G - ATM_000003 rs56399857 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
16 Parent #2 ?/? g.89813346C>T - FANCA_000037 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3349-48G>A r.(=) p.(=)
Legend