Individual #00021891

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


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013931 68y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002260 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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.45797133C>A - MUTYH_000065 - - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1240G>T, NM_001048172.1:c.1201G>T, NM_001048173.1:c.1198G>T, NM_001048174.1:c.1198G>T, NM_001128425.1:c.1282G>T, NM_012222.2:c.1273G>T r.(?) p.(Ala414Ser), p.(Ala401Ser), p.(Ala400Ser), p.(Ala428Ser), p.(Ala425Ser)
1 Parent #2 +/+ g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145G>A, NM_001048172.1:c.1106G>A, NM_001048173.1:c.1103G>A, NM_001048174.1:c.1103G>A, NM_001128425.1:c.1187G>A, NM_012222.2:c.1178G>A r.(?) p.(Gly382Asp), p.(Gly369Asp), p.(Gly368Asp), p.(Gly396Asp), p.(Gly393Asp)
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
3 Parent #2 -?/-? g.52439216G>A - BAP1_000037 rs71651686 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1026C>T r.(=) p.(=)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
9 Parent #2 ?/? g.98279008G>A - PTCH1_000125 rs1339622636 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_001083602.1:c.-255C>T, NM_001083603.1:c.95C>T r.(=), r.(?) p.(=), p.(Thr32Ile)
10 Parent #2 -?/-? g.72358722T>C - PRF1_000014 rs28933375 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
11 Parent #2 ?/? g.44265850G>A - EXT2_000034 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.*13G>A, NM_001178083.1:c.*13G>A, NM_207122.1:c.*13G>A r.(=) p.(=)
16 Parent #2 -?/-? g.68835754G>A - CDH1_000006  rs1801023 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
16 Parent #2 -/- g.68845646G>A - CDH1_000011 rs142822590 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.892G>A r.(?) p.(Ala298Thr)
16 Parent #2 ?/? g.89833610T>G - FANCA_000173 rs1430370721 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2540A>C r.(?) p.(Lys847Thr)
17 Parent #2 -?/-? g.29676253C>T - NF1_000257 rs369754180 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7242C>T, NM_001042492.2:c.7305C>T r.(=) p.(=)
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