Individual #00021727

Reference -
Gender F
Geographic origin Asia Minor
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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013926 68y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001949 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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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.45798225G>T - MUTYH_000001 - - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.648+21C>A, NM_001048172.1:c.609+21C>A, NM_001048173.1:c.606+21C>A, NM_001048174.1:c.606+21C>A, NM_001128425.1:c.690+21C>A, NM_012222.2:c.681+21C>A r.(=) p.(=)
2 Parent #2 ./. g.233199473G>A - DIS3L2_000004 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
3 Parent #2 ./. g.10103845C>T - FANCD2_000027 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1777C>T, NM_033084.3:c.1777C>T r.(?) p.(Pro593Ser)
4 Parent #2 ./. g.55561756G>A - KIT_000058 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.146G>A, NM_001093772.1:c.146G>A r.(?) p.(Arg49His)
5 Parent #2 ./. g.1286477G>T - chr5_000003 rs34363858 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.145738398C>T - RECQL4_000109 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2588G>A - p.?
9 Parent #2 ./. g.35075528T>A - FANCG_000004 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1367A>T r.(?) p.(His456Leu)
11 Parent #2 ./. g.108137891C>A - ATM_000213 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2467-7C>A r.(=) p.(=)
15 Parent #2 ./. g.40502378G>A - BUB1B_000063 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2352G>A r.(=) p.(=)
16 Parent #2 ./. g.3647747C>T - SLX4_000108 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1366+51G>A r.(=) p.(=)
16 Parent #2 ./. g.3658876G>A - SLX4_000010 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 ./. g.89842263del - FANCA_000113 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1827-40del r.(=) p.(=)
16 Parent #2 ./. g.89842266A>T - FANCA_000114 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1827-43T>A r.(=) p.(=)
16 Parent #2 ./. g.89858460C>G - FANCA_000202 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1100G>C r.(?) p.(Ser367Thr)
17 Parent #2 ./. g.56772522G>A - RAD51C_000007 rs61758784 - - - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.376G>A, NM_058216.2:c.376G>A r.(?) p.(Ala126Thr)
17 Parent #2 ./. g.56780540G>T - RAD51C_000004 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
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