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     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012531 20y - - - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

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 - - Germline - - - - 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 rs555799753 - Germline - - - - 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 rs751247865 - Germline - - - - 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 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
16 Parent #2 ?/? g.2138448T>G - TSC2_000244 rs762320484 - Germline - - - - 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 rs538441046 - Germline - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.561G>C r.(=) p.(=)
22 Parent #2 +?/+? g.29121087A>G - CHEK2_000007 rs17879961 Low risk allele Germline - - - - 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