Individual #00021376

Reference -
Gender F
Geographic origin Ethiopia
Geographic origin -
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     
0000013300 39y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007356 DNA SEQ-NG-I 1 - 64 Despoina Kalfakakou



Variants

64 entries on 1 page. Showing entries 1 - 64.
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     
2 Parent #2 ?/? g.47596750_47596751insGCTGG - EPCAM_000050 - - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.76+30_76+31insGCTGG r.(=) p.(=)
2 Parent #2 ?/? g.47637507G>T - MSH2_000097 rs763298811 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.641G>T, NM_001258281.1:c.443G>T r.(?) p.(Arg214Ile), p.(Arg148Ile)
2 Parent #2 ?/? g.58459171A>T - FANCL_000044 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.155+18T>A, NM_018062.3:c.155+18T>A r.(=) p.(=)
2 Parent #2 ?/? g.128047346G>A - ERCC3_000074 rs746534404 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.576C>T 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.233198606C>T - DIS3L2_000019 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-9449C>T, NM_152383.4:c.2067C>T r.(=) p.(=)
2 Parent #2 -?/-? g.233199346T>C - DIS3L2_000065 rs763103187 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8709T>C, NM_152383.4:c.2295T>C r.(=) p.(=)
2 Parent #2 ?/? g.233199477A>G - DIS3L2_000005 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8578A>G, NM_152383.4:c.2394+32A>G r.(=) p.(=)
2 Parent #2 ?/? g.233199497G>A - DIS3L2_000108 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8558G>A, NM_152383.4:c.2394+52G>A r.(=) p.(=)
3 Parent #2 ?/? g.10070456A>G - FANCD2_000153 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.64+51A>G, NM_033084.3:c.64+51A>G r.(=) p.(=)
3 Parent #2 -/- g.10074646G>C - FANCD2_000104 rs36084488 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.195G>C, NM_033084.3:c.195G>C r.(?) p.(Gln65His)
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.10128898T>C - FANCD2_000152 rs755205321 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3416T>C, NM_033084.3:c.3416T>C r.(?) p.(Met1139Thr)
3 Parent #2 ?/? g.14214409T>C - XPC_000072 rs3731063 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.257A>G, NM_004628.4:c.257A>G r.(?) p.(Lys86Arg)
3 Parent #1 -/- g.37067120_37067121insTTTA - MLH1_000135 rs535965616 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-8_1039-7insTTTA, NM_001167617.1:c.745-8_745-7insTTTA, NM_001167618.1:c.316-8_316-7insTTTA, NM_001167619.1:c.316-8_316-7insTTTA, NM_001258271.1:c.1039-8_1039-7insTTTA, NM_001258273.1:c.316-8_316-7insTTTA, NM_001258274.1:c.316-8_316-7insTTTA r.(=) p.(=)
3 Parent #2 -?/-? g.37067120_37067121insTTTT - MLH1_000025 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-8_1039-7insTTTT, NM_001167617.1:c.745-8_745-7insTTTT, NM_001167618.1:c.316-8_316-7insTTTT, NM_001167619.1:c.316-8_316-7insTTTT, NM_001258271.1:c.1039-8_1039-7insTTTT, NM_001258273.1:c.316-8_316-7insTTTT, NM_001258274.1:c.316-8_316-7insTTTT r.(=) p.(=)
3 Parent #2 -?/-? g.37090074A>G - MLH1_000038 rs55907433 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1963A>G, NM_001167617.1:c.1669A>G, NM_001167618.1:c.1240A>G, NM_001167619.1:c.1240A>G, NM_001258271.1:c.1896+900A>G, NM_001258273.1:c.1240A>G, NM_001258274.1:c.1240A>G r.(?), r.(=) p.(Ile655Val), p.(Ile557Val), p.(Ile414Val), p.(=)
3 Parent #2 ./. g.151899704T>A - chr3_000039 rs161792 - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 ./. g.1734281A>G - chr4_000025 rs798767 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.1288547T>C - chr5_000051 rs2853676 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.22125964T>C - chr6_000092 rs4712653 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.29918099G>T - chr6_000090 rs2517713 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32428285C>T - chr6_000096 rs6903608 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32572224A>G - chr6_000093 rs9270912 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32572290G>A - chr6_000086 rs9270915 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32572292A>C - chr6_000087 rs9270916 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32572294G>T - chr6_000088 rs9270917 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32592775A>G - chr6_000085 rs9271669 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32678999A>G - chr6_000084 rs9275572 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 -/- g.66459256T>C - SBDS_000032 rs1061695 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.201A>G r.(=) p.(=)
8 Parent #2 ?/? g.30998897A>G - WRN_000080 rs3087427 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2968-49A>G r.(=) p.(=)
8 Both (homozygous) ./. g.128323181T>C - chr8_000050 rs445114 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128485038A>C - chr8_000053 rs1447295 - - - - - - Despoina Kalfakakou - - - -
8 Both (homozygous) ./. g.128517573A>G - chr8_000052 rs4242382 - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ?/? g.35079185T>G - FANCG_000041 - - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.138A>C r.(=) p.(=)
9 Both (homozygous) ./. g.100556109A>G - chr9_000034 rs965513 - - - - - - Despoina Kalfakakou - - - -
9 Both (homozygous) ./. g.110888478G>T - chr9_000035 rs865686 - - - - - - Despoina Kalfakakou - - - -
11 Both (homozygous) ./. g.2233574A>G - chr11_000044 rs7127900 - - - - - - Despoina Kalfakakou - - - -
11 Both (homozygous) ./. g.56175671C>G - chr11_000046 rs1945213 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.69328764C>T - chr11_000045 rs614367 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.108122700T>C - ATM_000023 rs2235006 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1744T>C r.(?) p.(Phe582Leu)
11 Parent #2 ?/? g.111959733C>T - SDHD_000013 rs61734352 - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.169+1036C>T, NM_001276504.1:c.195C>T, NM_001276506.1:c.312C>T, NM_003002.3:c.312C>T r.(=) p.(=)
11 Both (homozygous) ./. g.118477367A>G - chr11_000047 rs498872 - - - - - - Despoina Kalfakakou - - - -
12 Parent #2 ./. g.49676010T>C - chr12_000030 rs10875943 - - - - - - Despoina Kalfakakou - - - -
12 Parent #2 ./. g.112645428_112645432del - chr12_000026 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ./. g.24127240C>T - chr13_000014 rs1572073 - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ./. g.36649253G>T - chr14_000004 - - - - - - - Despoina Kalfakakou - - - -
15 Both (homozygous) ./. g.32994777C>T - chr15_000028 rs4779585 - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ?/? g.40492414G>A - BUB1B_000071 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.1402-31G>A r.(=) p.(=)
15 Parent #2 -?/-? g.91295024C>T - BLM_000110 rs147850738 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.807C>T r.(=) p.(=)
15 Parent #2 -?/-? g.91341564T>C - BLM_000111 rs201847046 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3355T>C r.(=) p.(=)
16 Parent #2 -?/-? g.2103467C>T - TSC2_000316 rs570065416 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.336+14C>T, NM_001077183.1:c.336+14C>T, NM_001114382.1:c.336+14C>T r.(=) p.(=)
16 Parent #2 -?/-? g.23614975G>A - PALB2_000082 rs373783514 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.3366C>T r.(=) p.(=)
16 Parent #2 ?/? g.23641388G>A - PALB2_000081 rs587780820 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2087C>T r.(?) p.(Thr696Met)
16 Both (homozygous) ./. g.89755903A>G - chr16_000024 rs258322 - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -?/-? g.89815038G>A - FANCA_000026 rs1800348 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
16 Parent #2 ?/? g.89836551G>A - FANCA_000163 rs1800342 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2316+23C>T r.(=) p.(=)
16 Parent #2 ./. g.90066936A>C - chr16_000023 rs4785763 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.29556279T>C - NF1_000320 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2646T>C, NM_001042492.2:c.2646T>C r.(=) p.(=)
17 Parent #2 +/+ g.41226499C>T - BRCA1_000213 rs80356885 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4524G>A, NM_007297.3:c.4383G>A, NM_007298.3:c.1212G>A, NM_007299.3:c.1212G>A, NM_007300.3:c.4587G>A r.(?) p.(Trp1508*), p.(Trp1461*), p.(Trp404*), p.(Trp1529*)
18 Both (homozygous) ./. g.46453463T>C - chr18_000007 rs4939827 - - - - - - Despoina Kalfakakou - - - -
19 Both (homozygous) ./. g.51364623A>G - chr19_000020 rs2735839 - - - - - - Despoina Kalfakakou - - - -
Legend