Individual #00021598

Reference -
Gender F
Geographic origin Amarynthos, Euboea
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     
0000013599 53y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001785 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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     
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.475517A>G - chr6_000033 rs1877773 - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.43608353C>T - RET_000087 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.1701C>T, NM_020975.4:c.1701C>T r.(=) p.(=)
10 Parent #2 ./. g.64580528T>G - chr10_000004 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.88649869G>A - BMPR1A_000038 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.118G>A r.(?) p.(Asp40Asn)
10 Parent #2 ./. g.89653834C>T - PTEN_000006 - - - - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T r.(=) p.(=)
13 Parent #2 ./. g.103514425C>T - ERCC5_000019 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.926C>T r.(?) p.(Pro309Leu)
16 Parent #2 ./. g.2121637C>T - TSC2_000051 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1946+20C>T, NM_001077183.1:c.1946+20C>T, NM_001114382.1:c.1946+20C>T r.(=) p.(=)
17 Parent #2 ./. g.7578146T>C - TP53_000002 rs34949160 - - - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.672+31A>G, NM_001126112.2:c.672+31A>G, NM_001126113.2:c.672+31A>G, NM_001126114.2:c.672+31A>G, NM_001126115.1:c.276+31A>G, NM_001126116.1:c.276+31A>G, NM_001126117.1:c.276+31A>G, NM_001126118.1:c.555+31A>G, NM_001276695.1:c.555+31A>G, NM_001276696.1:c.555+31A>G, NM_001276697.1:c.195+31A>G, NM_001276698.1:c.195+31A>G, NM_001276699.1:c.195+31A>G, NM_001276760.1:c.555+31A>G, NM_001276761.1:c.555+31A>G r.(=) p.(=)
17 Parent #2 ./. g.29683945G>A - NF1_000200 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7676-33G>A, NM_001042492.2:c.7739-33G>A r.(=) p.(=)
17 Parent #2 ./. g.41249263G>A - BRCA1_000012 rs1799965 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.591C>T, NM_007297.3:c.450C>T, NM_007298.3:c.591C>T, NM_007299.3:c.591C>T, NM_007300.3:c.591C>T r.(=) p.(=)
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