Individual #00019916

Reference -
Gender F
Geographic origin Rethimno, Crete
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CMM3, CRC
Owner name Despoina Kalfakakou


Phenotypes

Melanoma, cutaneous malignant, 3 (CMM3)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Subtype     

Owner     
0000012128 50y - - - - - Despoina Kalfakakou

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subcategory     

Histology     

Grade     

Stage     

LN     

MSI     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012129 61y - - Right Side - II - Positive - No Yes No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000561 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-14_424-13insTTC r.(=) p.(=)
2 Parent #2 ./. g.29519784A>G - ALK_000038 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1787T>C r.(?) p.(Met596Thr)
2 Parent #2 ./. g.128028902G>T - ERCC3_000028 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1945+10C>A r.(=) p.(=)
3 Parent #2 ./. g.52437424A>G - BAP1_000014 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1729+8T>C r.(=) p.(=)
7 Parent #2 ./. g.50470595G>A - chr7_000004 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.98211538C>T - PTCH1_000008 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3617G>A, NM_001083602.1:c.3419G>A, NM_001083603.1:c.3614G>A, NM_001083604.1:c.3164G>A, NM_001083605.1:c.3164G>A, NM_001083606.1:c.3164G>A, NM_001083607.1:c.3164G>A r.(?) p.(Arg1206His), p.(Arg1140His), p.(Arg1205His), p.(Arg1055His)
11 Parent #2 ./. g.32456784C>G - WT1_000005 - - - - - - - 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.(=)
11 Parent #2 ./. g.44255779A>C - EXT2_000025 - - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.2020A>C, NM_001178083.1:c.1951A>C, NM_207122.1:c.1921A>C r.(?) p.(Lys674Gln), p.(Lys651Gln), p.(Lys641Gln)
17 Parent #2 ./. g.29422436del - NF1_000162 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.60+49del, NM_001042492.2:c.60+49del, NM_001128147.2:c.60+49del r.(=) p.(=)
17 Parent #2 ./. g.56780681A>G - RAD51C_000002 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.696A>G r.(=) p.(=)
20 Both (homozygous) ./. g.62309839A>G - chr20_000006 rs6010620 - - - - - - Despoina Kalfakakou - - - -
21 Parent #2 ./. g.36259125T>C - RUNX1_000006 - - - - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.270+15A>G, NM_001122607.1:c.270+15A>G, NM_001754.4:c.351+15A>G r.(=) p.(=)
Legend