Individual #00020763

Reference -
Gender M
Geographic origin Naxos
Geographic origin -
Population German-Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrainCa, ColPol
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     
0000012531 20y Primitive Neuroectodermal Neoplasm - - IV - - - - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012532 20y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001413 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     
1 Parent #2 ./. g.161293488A>T - SDHC_000001 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+28A>T, NM_001035512.1:c.77+28A>T, NM_001035513.1:c.20+9273A>T, NM_001278172.1:c.77+28A>T, NM_003001.3:c.77+28A>T r.(=) p.(=)
5 Parent #2 ./. g.112178041C>T - APC_000092 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.6750C>T, NM_001127510.2:c.6750C>T, NM_001127511.2:c.6696C>T r.(=) p.(=)
10 Parent #2 ./. g.72358811G>T - PRF1_000034 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.666C>A, NM_005041.4:c.666C>A r.(?) p.(His222Gln)
10 Parent #2 ./. g.104359297G>T - SUFU_000001 rs34135067 - - - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1018G>T, NM_016169.3:c.1018G>T r.(?) p.(Ala340Ser)
12 Parent #2 ./. g.121434317C>T - HNF1A_000001 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
16 Parent #2 ./. g.2138448T>G - TSC2_000244 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5261T>G, NM_001077183.1:c.5060T>G, NM_001114382.1:c.5192T>G r.(?) p.(Ile1754Ser), p.(Ile1687Ser), p.(Ile1731Ser)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.25541317C>T - chr17_000002 - - - - - - - Despoina Kalfakakou - - - -
19 Parent #2 ./. g.33792760C>G - CEBPA_000007 - - - - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.561G>C r.(=) p.(=)
22 Parent #2 ./. g.29121087A>G - CHEK2_000007 rs17879961 - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.599T>C, NM_001257387.1:c.-308T>C, NM_007194.3:c.470T>C, NM_145862.2:c.470T>C r.(=), r.(?) p.(Ile200Thr), p.(=), p.(Ile157Thr)
Legend