Individual #00021899

Reference -
Gender F
Geographic origin Karditsa
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     
0000013193 22y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001684 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.45798559_45798571del - MUTYH_000027 rs781222233 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.462+19_462+31del, NM_001048172.1:c.423+19_423+31del, NM_001048173.1:c.420+19_420+31del, NM_001048174.1:c.420+19_420+31del, NM_001128425.1:c.504+19_504+31del, NM_012222.2:c.495+19_495+31del r.(=) p.(=)
8 Parent #2 -?/-? g.90990521T>C   Yamamoto et al (2014)   NBN_000003 rs61754966 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.511A>G r.(?) p.(Ile171Val)
9 Parent #2 -?/-? g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4324C>T, NM_001083602.1:c.4126C>T, NM_001083603.1:c.4321C>T, NM_001083604.1:c.3871C>T, NM_001083605.1:c.3871C>T, NM_001083606.1:c.3871C>T, NM_001083607.1:c.3871C>T r.(?) p.(Arg1442Trp), p.(Arg1376Trp), p.(Arg1441Trp), p.(Arg1291Trp)
9 Parent #2 -?/-? g.98209591T>C - PTCH1_000051 rs147067171 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3947A>G, NM_001083602.1:c.3749A>G, NM_001083603.1:c.3944A>G, NM_001083604.1:c.3494A>G, NM_001083605.1:c.3494A>G, NM_001083606.1:c.3494A>G, NM_001083607.1:c.3494A>G r.(?) p.(Tyr1316Cys), p.(Tyr1250Cys), p.(Tyr1315Cys), p.(Tyr1165Cys)
11 Parent #2 -?/-? g.108124779del - ATM_000198 rs35211268 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2124+13del r.(=) p.(=)
11 Parent #2 -?/-? g.108170506A>C - ATM_000001 rs1800059 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5071A>C r.(?) p.(Ser1691Arg)
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.3639461A>G - SLX4_000132 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4178T>C r.(?) p.(Val1393Ala)
19 Parent #2 ?/? g.33792731_33792732insGCGGGT - CEBPA_000010 - - Germline - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.589_590insACCCGC r.(?) p.(His195_Pro196dup)
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