Individual #00021383

Reference -
Gender F
Geographic origin Lefkogeia, Drama & Cappadocia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases OVCA, PANCA
Owner name Despoina Kalfakakou


Phenotypes

Pancreatic cancer (PANCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013668 56y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013667 56y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000970 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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     
3 Parent #2 -/- g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.78A>C, NM_033084.3:c.78A>C r.(?) p.(Gln26His)
3 Parent #2 -/- g.14212047G>A - XPC_000008 rs41545713 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
7 Parent #2 -?/-? g.6026685G>T - PMS2_000047 rs63750055 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1711C>A r.(?) p.(Leu571Ile)
11 Parent #2 -/- g.22646984C>T - FANCF_000001 rs61752920 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
11 Parent #2 -?/-? g.64572211C>G - MEN1_000023 rs1555163730 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1443G>C, NM_130799.2:c.1428G>C, NM_130800.2:c.1443G>C, NM_130801.2:c.1443G>C, NM_130802.2:c.1443G>C, NM_130803.2:c.1443G>C, NM_130804.2:c.1443G>C r.(=) p.(=)
12 Parent #2 ./. g.112521402G>A - chr12_000004 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ?/? g.91295116T>C - BLM_000065 - - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.899T>C r.(?) p.(Phe300Ser)
16 Parent #2 -/- g.2138546G>A - TSC2_000004 rs45517419 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5359G>A, NM_001077183.1:c.5158G>A, NM_001114382.1:c.5290G>A r.(?) p.(Gly1787Ser), p.(Gly1720Ser), p.(Gly1764Ser)
16 Parent #2 -?/-? g.14029073G>A - ERCC4_000015 rs3136151 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1284G>A r.(=) p.(=)
16 Parent #2 -?/-? g.68862204C>T - CDH1_000002 rs61747636 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2292C>T r.(=) p.(=)
17 Parent #2 -?/-? g.56772522G>A - RAD51C_000007 rs61758784 - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.376G>A, NM_058216.2:c.376G>A r.(?) p.(Ala126Thr)
17 Parent #2 -?/-? g.56780540G>T - RAD51C_000004 rs193023469 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
17 Parent #2 +?/+? g.56798178G>T - RAD51C_000015 rs587782702 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.904+5G>T r.spl? p.?
17 Parent #2 ?/? g.59885949G>A - BRIP1_000041 rs550031006 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.797C>T r.(?) p.(Thr266Met)
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