Individual #00019811

Reference -
Gender M
Geographic origin Constantinople
Geographic origin Athens
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ColPol, CRC
Owner name Despoina Kalfakakou


Phenotypes

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012031 67y - - No No No - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012032 42y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000481 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.17354373_17354374insGAA - SDHB_000012 - - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-14_424-13insTTC r.(=) p.(=)
5 Parent #2 ?/? g.112177191C>G - APC_000033 rs1561603538 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.5900C>G, NM_001127510.2:c.5900C>G, NM_001127511.2:c.5846C>G r.(?) p.(Ser1967Cys), p.(Ser1949Cys)
8 Parent #2 -?/-? g.118819560G>A - EXT1_000009 rs143881630 - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1779C>T r.(=) p.(=)
11 Parent #2 ?/? g.32456784C>G - WT1_000005 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.108G>C, NM_001198551.1:c.-4699G>C, NM_001198552.1:c.-4699G>C, NM_024424.3:c.108G>C, NM_024426.4:c.108G>C r.(=) p.(=)
13 Parent #2 -?/-? g.49039095del - RB1_000023 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ?/? g.49039095dup - RB1_000022 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
15 Parent #2 ?/? g.40477447A>G - BUB1B_000026 rs776666761 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.833A>G r.(?) p.(Asn278Ser)
16 Parent #2 -?/-? g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5383C>T, NM_001077183.1:c.5182C>T, NM_001114382.1:c.5314C>T r.(?) p.(Arg1795Cys), p.(Arg1728Cys), p.(Arg1772Cys)
Legend