Individual #00020892

Reference -
Gender M
Geographic origin Ierapetra, Crete
Geographic origin Russian Pontus
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrainCa, HMGM
Owner name Despoina Kalfakakou


Phenotypes

Brain Cancer (BrainCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012748 6y - - - Despoina Kalfakakou

Hemangioma  (HMGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012747 0y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007522 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.30143176G>A - ALK_000125 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.350C>T r.(?) p.(Pro117Leu)
9 Parent #2 ./. g.135776062G>A - TSC1_000086 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2625+40C>T, NM_001162426.1:c.2622+40C>T, NM_001162427.1:c.2472+40C>T r.(=) p.(=)
10 Parent #2 ?/? g.43600559T>C - RET_000006 rs139790943 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.785T>C, NM_020975.4:c.785T>C r.(?) p.(Val262Ala)
10 Parent #2 ./. g.88676926C>A - BMPR1A_000050 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.711C>A r.(=) p.(=)
15 Parent #2 ./. g.40476033G>A - BUB1B_000074 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.700G>A r.(?) p.(Gly234Arg)
17 Parent #2 ?/? g.17119805C>T - FLCN_000010 rs752006809 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*4888G>A, NM_144997.5:c.1189G>A r.(=), r.(?) p.(=), p.(Val397Met)
20 Both (homozygous) ./. g.62309839A>G - chr20_000017 rs6010620 - - - - - - Despoina Kalfakakou - - - -
Legend