Individual #00021399

Reference -
Gender F
Geographic origin Heraklion, Crete
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ENC, OVCA
Owner name Despoina Kalfakakou


Phenotypes

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013277 37y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013276 37y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001076 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.45796894_45796896del - MUTYH_000068  rs587778541 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1392_1394del, NM_001048172.1:c.1353_1355del, NM_001048173.1:c.1350_1352del, NM_001048174.1:c.1350_1352del, NM_001128425.1:c.1434_1436del, NM_012222.2:c.1425_1427del r.(?) p.(Glu466del), p.(Glu453del), p.(Glu452del), p.(Glu480del), p.(Glu477del)
2 Parent #2 +/+ g.48025898del - MSH6_000060 - - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.776del, NM_001281492.1:c.386del, NM_001281493.1:c.-131del, NM_001281494.1:c.-131del r.(?), r.(=) p.(Gly259Valfs*20), p.(Gly129Valfs*20), p.(=)
3 Parent #2 -?/-? g.37090445C>T - MLH1_000079 rs63749867 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.2040C>T, NM_001167617.1:c.1746C>T, NM_001167618.1:c.1317C>T, NM_001167619.1:c.1317C>T, NM_001258271.1:c.1896+1271C>T, NM_001258273.1:c.1317C>T, NM_001258274.1:c.1317C>T r.(=) p.(=)
5 Parent #2 ?/? g.112173713_112173715del - APC_000077 rs587781469 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.2422_2424del, NM_001127510.2:c.2422_2424del, NM_001127511.2:c.2368_2370del r.(?) p.(Asp808del), p.(Asp790del)
10 Parent #2 -?/-? g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.430+25G>A r.(=) p.(=)
16 Parent #2 ?/? g.3658448G>C - SLX4_000093 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.518C>G r.(?) p.(Ser173Cys)
16 Parent #2 ?/? g.89805935G>T - FANCA_000053 rs755375493 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3961C>A r.(?) p.(Arg1321Ser)
16 Parent #2 ?/? g.89816304C>A - FANCA_000123 rs1567603979 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3073G>T r.(?) p.(Val1025Leu)
16 Parent #2 -?/-? g.89845393G>A - FANCA_000103 rs762647468 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1734C>T r.(=) p.(=)
16 Parent #2 ?/? g.89877377G>A - FANCA_000122 rs577625130 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.386C>T, NM_001018112.1:c.386C>T r.(?) p.(Ala129Val)
17 Parent #2 ?/? g.74470000A>T - RHBDF2_000013 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1575-16T>A, NM_024599.5:c.1662-16T>A r.(=) p.(=)
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