Individual #00021551

Reference -
Gender F
Geographic origin Boeotia
Geographic origin Athens
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CMM3, OVCA
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     
0000013382 44y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013624 54y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001730 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.193119552T>A - CDC73_000030 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.907+40T>A r.(=) p.(=)
2 Parent #2 ./. g.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ?/? g.52438457A>G - BAP1_000063 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1250+12T>C r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 -?/-? g.6026827G>C - PMS2_000024 rs141458772 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1569C>G r.(=) p.(=)
8 Parent #2 ?/? g.145739573C>T - RECQL4_000184 rs1433507669 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1878G>A - p.?
10 Parent #2 -?/-? g.104357064C>T - SUFU_000003 rs202247757 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.910+14C>T, NM_016169.3:c.910+14C>T r.(=) p.(=)
11 Parent #2 -/- g.64572560C>T - MEN1_000003 rs138770431 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1311G>A, NM_130799.2:c.1296G>A, NM_130800.2:c.1311G>A, NM_130801.2:c.1311G>A, NM_130802.2:c.1311G>A, NM_130803.2:c.1311G>A, NM_130804.2:c.1311G>A r.(=) p.(=)
12 Parent #2 ?/? g.58144942A>G - CDK4_000005 - - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.354+48T>C r.(=) p.(=)
13 Parent #2 -/- g.32913947C>T - BRCA2_000128 rs80358768 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5455C>T r.(?) p.(Pro1819Ser)
15 Parent #2 -?/-? g.89825056A>G - FANCI_000018 rs144908351 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1573A>G, NM_018193.2:c.1573A>G r.(?) p.(Met525Val)
16 Parent #2 -/- g.14026008T>C - ERCC4_000003 rs201181735 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.974-6T>C r.(=) p.(=)
16 Parent #2 ?/? g.89831492C>G - FANCA_000015 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2602-18G>C r.(=) p.(=)
22 Parent #2 ?/? g.24176385G>A - SMARCB1_000020 rs377133288 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.*18G>A, NM_003073.3:c.*18G>A r.(=) p.(=)
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