Individual #00020786

Reference -
Gender F
Geographic origin Athens
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases CMM3
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     
0000012580 41y Cheek - - - Nodular, Epithelial Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001476 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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     
2 Parent #2 ./. g.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
2 Parent #2 ./. g.233001478T>C - DIS3L2_000060 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.950+49T>C, NM_152383.4:c.950+49T>C r.(=) p.(=)
5 Parent #2 ./. g.112151320A>G - APC_000022 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.933+30A>G, NM_001127510.2:c.933+30A>G, NM_001127511.2:c.879+30A>G r.(=) p.(=)
5 Parent #2 ./. g.112175240G>C - APC_000031 rs1801166 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3949G>C, NM_001127510.2:c.3949G>C, NM_001127511.2:c.3895G>C r.(?) p.(Glu1317Gln), p.(Glu1299Gln)
5 Parent #2 ./. g.112176556G>A - APC_000006 rs34506289 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.5265G>A, NM_001127510.2:c.5265G>A, NM_001127511.2:c.5211G>A r.(=) p.(=)
8 Parent #2 ./. g.30969141T>C - WRN_000089 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2099T>C r.(?) p.(Val700Ala)
8 Parent #2 ./. g.90996793T>C - NBN_000046 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.-4A>G r.(=) p.(=)
9 Parent #2 ./. g.135804266G>A - TSC1_000005 rs62621221 - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.-7C>T, NM_001162426.1:c.-7C>T, NM_001162427.1:c.-7C>T r.(=) p.(=)
15 Parent #2 ./. g.89857934C>T - FANCI_000004 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3812C>T, NM_018193.2:c.3632C>T r.(?) p.(Ser1271Phe), p.(Ser1211Phe)
16 Parent #2 ./. g.2125770C>G - TSC2_000249 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2546-30C>G, NM_001077183.1:c.2546-30C>G, NM_001114382.1:c.2546-30C>G r.(=) p.(=)
16 Parent #2 ./. g.3632342A>G - SLX4_000085 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.*1T>C r.(=) p.(=)
16 Parent #2 ./. g.3658876G>A - SLX4_000010 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend