Individual #00021812

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


Phenotypes

Lymphoma, non-Hodgkin (NHL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013781 60y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013609 53y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002106 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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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.17355218A>G - SDHB_000003 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
1 Parent #2 +/+ g.45798475T>C - MUTYH_000032 rs34612342 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.494A>G, NM_001048172.1:c.455A>G, NM_001048173.1:c.452A>G, NM_001048174.1:c.452A>G, NM_001128425.1:c.536A>G, NM_012222.2:c.527A>G r.(?) p.(Tyr165Cys), p.(Tyr152Cys), p.(Tyr151Cys), p.(Tyr179Cys), p.(Tyr176Cys)
2 Parent #2 -?/-? g.29917736C>T - ALK_000001 rs150966028 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.932G>A r.(?) p.(Arg311His)
3 Parent #2 ?/? g.14193816_14193817insC - XPC_000022 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2004+18_2004+19insG, NM_004628.4:c.2115+18_2115+19insG r.(=) p.(=)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
8 Parent #2 -/- g.30954294C>T - WRN_000030 rs148286708 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1909C>T r.(?) p.(Arg637Trp)
9 Parent #2 ?/? g.98011497G>A - FANCC_000007 rs1800361 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
10 Parent #2 -?/-? g.104359297G>T - SUFU_000001 rs34135067 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1018G>T, NM_016169.3:c.1018G>T r.(?) p.(Ala340Ser)
11 Parent #2 -?/-? g.44228492C>T - EXT2_000009 rs142565472 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1744C>T, NM_001178083.1:c.1675C>T, NM_207122.1:c.1645C>T r.(=) p.(=)
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
11 Parent #2 -?/-? g.108172468A>G - ATM_000221 rs1555105759 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5271A>G r.(=) p.(=)
12 Parent #2 -/- g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.336G>A r.(=) p.(=)
12 Parent #2 -?/-? g.121437108C>T - HNF1A_000015 rs193922584 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1539C>T r.(=) p.(=)
16 Parent #2 -?/-? g.89815038G>A - FANCA_000026 rs1800348 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
Legend