Individual #00021427

Reference -
Gender F
Geographic origin Lesbos
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     
0000013940 69y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001144 DNA SEQ-NG-I 1 - 26 Despoina Kalfakakou



Variants

26 entries on 1 page. Showing entries 1 - 26.
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.29450572G>C - ALK_000057 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2816-34C>G r.(=) p.(=)
2 Parent #2 ?/? g.29473924T>C - ALK_000071 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2204+47A>G r.(=) p.(=)
2 Parent #2 ?/? g.47702458T>G - MSH2_000039 - - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2005+49T>G, NM_001258281.1:c.1807+49T>G r.(=) p.(=)
2 Parent #2 ./. g.61066661G>A - chr2_000007 rs6720506 - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ?/? g.96920780G>C - TMEM127_000008 - - Germline - - - - Despoina Kalfakakou TMEM127 - NM_001193304.2:c.245-45C>G, NM_017849.3:c.245-45C>G r.(=) p.(=)
3 Parent #2 ?/? g.14200206G>A - XPC_000026 rs121965090 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1066C>T, NM_004628.4:c.1177C>T r.(?) p.(Arg356Trp), p.(Arg393Trp)
3 Parent #2 -?/-? g.37067099_37067100insTATAT - MLH1_000082 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-29_1039-28insTATAT, NM_001167617.1:c.745-29_745-28insTATAT, NM_001167618.1:c.316-29_316-28insTATAT, NM_001167619.1:c.316-29_316-28insTATAT, NM_001258271.1:c.1039-29_1039-28insTATAT, NM_001258273.1:c.316-29_316-28insTATAT, NM_001258274.1:c.316-29_316-28insTATAT r.(=) p.(=)
7 Parent #2 ?/? g.116403252A>T - MET_000047 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.2513A>T, NM_001127500.1:c.2567A>T r.(?) p.(Asn838Ile), p.(Asn856Ile)
8 Parent #2 ?/? g.145737877C>T - RECQL4_000136 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2954G>A - p.?
9 Parent #2 ?/? g.35074213C>A - FANCG_000022 - - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1761G>T r.(?) p.(Trp587Cys)
9 Parent #2 ?/? g.35074241G>T - FANCG_000009 - - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1761-28C>A r.(=) p.(=)
9 Parent #2 ?/? g.135777958C>T - TSC1_000002 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2391+34G>A, NM_001162426.1:c.2388+34G>A, NM_001162427.1:c.2238+34G>A r.(=) p.(=)
10 Parent #2 ./. g.80841170G>A - chr10_000031 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
14 Parent #2 -/- g.45606290C>T - FANCM_000011 rs77374493 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
14 Parent #2 ?/? g.45654531C>T - FANCM_000008 rs139536545 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4627C>T r.(?) p.(Leu1543Phe)
16 Parent #2 ?/? g.2115656C>T - TSC2_000201 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1716+20C>T, NM_001077183.1:c.1716+20C>T, NM_001114382.1:c.1716+20C>T r.(=) p.(=)
16 Parent #2 ?/? g.2122392del - TSC2_000019 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2220+28del, NM_001077183.1:c.2220+28del, NM_001114382.1:c.2220+28del r.(=) p.(=)
16 Parent #2 ?/? g.3632298T>G - SLX4_000099 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.*45A>C r.(=) p.(=)
16 Parent #2 -/- g.3640715G>A - SLX4_000018 rs114472821 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
16 Parent #2 -/- g.3645724C>T - SLX4_000019 rs149916101 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1925-30G>A r.(=) p.(=)
16 Parent #2 -/- g.3646275C>T - SLX4_000001 rs144892556 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1803G>A r.(=) p.(=)
16 Parent #2 -/- g.3646323G>A - SLX4_000002 rs114016359 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1755C>T r.(=) p.(=)
17 Parent #2 -?/-? g.7574013G>A - TP53_000013  rs150293825 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.1014C>T, NM_001126112.2:c.1014C>T, NM_001126113.2:c.*33C>T, NM_001126114.2:c.*121C>T, NM_001126115.1:c.618C>T, NM_001126116.1:c.*121C>T, NM_001126117.1:c.*33C>T, NM_001126118.1:c.897C>T, NM_001276695.1:c.*33C>T, NM_001276696.1:c.*121C>T, NM_001276697.1:c.537C>T, NM_001276698.1:c.*121C>T, NM_001276699.1:c.*33C>T, NM_001276760.1:c.897C>T, NM_001276761.1:c.897C>T r.(=) p.(=)
17 Parent #2 -?/-? g.41199745A>T - BRCA1_000077 rs758780152 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5407-25T>A, NM_007297.3:c.5266-25T>A, NM_007298.3:c.2095-25T>A, NM_007299.3:c.2021-25T>A, NM_007300.3:c.5470-25T>A r.(=) p.(=)
22 Parent #2 -?/-? g.24175804C>T - SMARCB1_000014 rs149451748 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.1005C>T, NM_003073.3:c.1032C>T r.(=) p.(=)
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