Individual #00020789

Reference -
Gender M
Geographic origin Piraeus
Geographic origin Thessaloniki
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     
0000012581 42y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001479 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou



Variants

5 entries on 1 page. Showing entries 1 - 5.
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.29519841T>C - ALK_000085 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1730A>G r.(?) p.(Gln577Arg)
2 Parent #2 ?/? g.48026150C>A - MSH6_000073 rs548898238 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.1028C>A, NM_001281492.1:c.638C>A, NM_001281493.1:c.122C>A, NM_001281494.1:c.122C>A r.(?) p.(Pro343His), p.(Pro213His), p.(Pro41His)
9 Parent #2 ?/? g.135772529G>A - TSC1_000065 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2975+42C>T, NM_001162426.1:c.2972+42C>T, NM_001162427.1:c.2822+42C>T r.(=) p.(=)
10 Parent #2 +/+ g.43607621G>T Kaldrymides et al (2006) Peppa et al (2008) RET_000073 rs75873440 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1597G>T, NM_020975.4:c.1597G>T r.(?) p.(Gly533Cys)
13 Parent #2 ?/? g.103506112G>A - ERCC5_000013 rs760695391 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.270G>A r.(=) p.(=)
Legend