Individual #00020057

Reference -
Gender M
Geographic origin Constantinople
Geographic origin Smyrna
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     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012310 75y - - Uveal Despoina Kalfakakou

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     
0000012309 74y - - No Yes No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000706 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.193121485A>G - CDC73_000009 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.908-25A>G r.(=) p.(=)
2 Parent #2 -?/-? g.30142911G>A - ALK_000046 rs567498111 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.615C>T r.(=) p.(=)
3 Parent #2 ?/? g.52443910C>T - BAP1_000032 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.-16G>A r.(=) p.(=)
6 Parent #2 ./. g.32428323C>T - chr6_000042 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.32449469A>G - WT1_000015 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.872+33T>C, NM_001198551.1:c.236+33T>C, NM_001198552.1:c.236+33T>C, NM_024424.3:c.872+33T>C, NM_024426.4:c.872+33T>C r.(=) p.(=)
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.89811474C>G - FANCA_000088 rs758341181 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3519G>C r.(?) p.(Trp1173Cys)
17 Parent #2 ?/? g.66521131T>A - PRKAR1A_000003 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.549+32T>A, NM_001276290.1:c.549+32T>A, NM_002734.4:c.549+32T>A, NM_212471.2:c.549+32T>A, NM_212472.2:c.549+32T>A r.(=) p.(=)
19 Parent #2 -?/-? g.45860724G>A - ERCC2_000022 rs370862494 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1377+8C>T, NM_001130867.1:c.*1394C>T r.(=) p.(=)
19 Parent #2 ?/? g.45868199T>C - ERCC2_000042 rs769656890 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.491A>G, NM_001130867.1:c.419A>G r.(?) p.(His164Arg), p.(His140Arg)
Legend