Individual #00021440

Reference -
Gender F
Geographic origin Evrytania¬†
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 3
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     
0000013456 47y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007377 DNA SEQ-NG-I 1 - 48 Despoina Kalfakakou



Variants

48 entries on 1 page. Showing entries 1 - 48.
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.45797139G>A - MUTYH_000005 rs150792276 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1234C>T, NM_001048172.1:c.1195C>T, NM_001048173.1:c.1192C>T, NM_001048174.1:c.1192C>T, NM_001128425.1:c.1276C>T, NM_012222.2:c.1267C>T r.(?) p.(Arg412Cys), p.(Arg399Cys), p.(Arg398Cys), p.(Arg426Cys), p.(Arg423Cys)
1 Parent #2 -?/-? g.45798855G>C - MUTYH_000002 rs201207780 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.347-13C>G, NM_001048172.1:c.308-13C>G, NM_001048173.1:c.305-13C>G, NM_001048174.1:c.305-13C>G, NM_001128425.1:c.389-13C>G, NM_012222.2:c.380-13C>G r.(=) p.(=)
2 Both (homozygous) ./. g.177042633A>C - chr2_000036 rs2072590 - - - - - - Despoina Kalfakakou - - - -
2 Both (homozygous) ?/? g.215672546G>T - BARD1_000010 rs6435862 - Germline - - - - Despoina Kalfakakou BARD1 - NM_000465.2:c.158+1590C>A r.(=) p.(=)
2 Parent #2 -/- g.233201353G>A - DIS3L2_000027 rs200467865 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-6702G>A, NM_152383.4:c.*13G>A r.(=) p.(=)
3 Parent #2 -/- g.10085536A>G - FANCD2_000166 rs34046352 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1122A>G, NM_033084.3:c.1122A>G r.(=) p.(=)
3 Parent #2 -/- g.10106532C>T - FANCD2_000162 rs3864017 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2141C>T, NM_033084.3:c.2141C>T r.(?) p.(Pro714Leu)
3 Parent #2 ?/? g.37089991C>G - MLH1_000056 rs2308316 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1897-17C>G, NM_001167617.1:c.1603-17C>G, NM_001167618.1:c.1174-17C>G, NM_001167619.1:c.1174-17C>G, NM_001258271.1:c.1896+817C>G, NM_001258273.1:c.1174-17C>G, NM_001258274.1:c.1174-17C>G r.(=) p.(=)
3 Parent #2 ./. g.151899704T>A - chr3_000039 rs161792 - - - - - - Despoina Kalfakakou - - - -
4 Both (homozygous) ./. g.1734281A>G - chr4_000025 rs798767 - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 ?/? g.55598212del - KIT_000007 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48del, NM_001093772.1:c.2349+48del r.(=) p.(=)
4 Parent #1 ?/? g.55598212dup - KIT_000006 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48dup, NM_001093772.1:c.2349+48dup r.(=) p.(=)
5 Both (homozygous) ./. g.1288547T>C - chr5_000051 rs2853676 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.29906691A>G - chr6_000094 rs2860580 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.29918072C>T - chr6_000095 rs1632877 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.29918073G>A - chr6_000089 rs9260377 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.29918099G>T - chr6_000090 rs2517713 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32428285C>T - chr6_000096 rs6903608 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32572224A>G - chr6_000093 rs9270912 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32572290G>A - chr6_000086 rs9270915 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32572292A>C - chr6_000087 rs9270916 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32572294G>T - chr6_000088 rs9270917 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32592775A>G - chr6_000085 rs9271669 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32678999A>G - chr6_000084 rs9275572 - - - - - - Despoina Kalfakakou - - - -
8 Both (homozygous) ./. g.32432399C>G - chr8_000055 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128103937T>C - chr8_000051 rs1456315 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128323181T>C - chr8_000050 rs445114 - - - - - - Despoina Kalfakakou - - - -
8 Both (homozygous) ./. g.128485038A>C - chr8_000053 rs1447295 - - - - - - Despoina Kalfakakou - - - -
8 Both (homozygous) ./. g.128517573A>G - chr8_000052 rs4242382 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128718068G>T - chr8_000054 rs9642880 - - - - - - Despoina Kalfakakou - - - -
9 Both (homozygous) ./. g.100556109A>G - chr9_000034 rs965513 - - - - - - Despoina Kalfakakou - - - -
9 Both (homozygous) ./. g.110888478G>T - chr9_000035 rs865686 - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -?/-? g.43598049C>T - RET_000023 rs55810667 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.597C>T, NM_020975.4:c.597C>T r.(=) p.(=)
11 Both (homozygous) ./. g.2233574A>G - chr11_000044 rs7127900 - - - - - - Despoina Kalfakakou - - - -
11 Both (homozygous) ./. g.2233609G>A - chr11_000043 rs7112959 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.56175671C>G - chr11_000046 rs1945213 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.69328764C>T - chr11_000045 rs614367 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.95532375A>G - CEP57_000005 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.19-21A>G, NM_001243777.1:c.46-21A>G, NM_014679.4:c.46-21A>G r.(=) p.(=)
11 Both (homozygous) ./. g.118477367A>G - chr11_000047 rs498872 - - - - - - Despoina Kalfakakou - - - -
13 Both (homozygous) ./. g.24127240C>T - chr13_000014 rs1572073 - - - - - - Despoina Kalfakakou - - - -
15 Both (homozygous) ./. g.32994777C>T - chr15_000028 rs4779585 - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.2138352G>A - TSC2_000169 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5259+26G>A, NM_001077183.1:c.5058+26G>A, NM_001114382.1:c.5190+26G>A r.(=) p.(=)
16 Parent #2 ./. g.89755903A>G - chr16_000024 rs258322 - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 +/+ g.89882973_89882974insC - FANCA_000209 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.50_51insG, NM_001018112.1:c.50_51insG r.(?) p.(Arg18Profs*19)
16 Both (homozygous) ./. g.90066936A>C - chr16_000023 rs4785763 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.66511747T>G - PRKAR1A_000002 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.177+30T>G, NM_001276290.1:c.177+30T>G, NM_002734.4:c.177+30T>G, NM_212471.2:c.177+30T>G, NM_212472.2:c.177+30T>G r.(=) p.(=)
18 Parent #2 ./. g.46453463T>C - chr18_000007 rs4939827 - - - - - - Despoina Kalfakakou - - - -
19 Parent #2 ./. g.51364623A>G - chr19_000020 rs2735839 - - - - - - Despoina Kalfakakou - - - -
Legend