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     

OvCa FH     

Subtype     

Owner     
0000013599 53y - - 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.
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     
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 rs201209972 - Germline - - - - 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 rs587781556 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.118G>A r.(?) p.(Asp40Asn)
10 Parent #2 -?/-? g.89653834C>T - PTEN_000006 rs150651961 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T r.(=) p.(=)
13 Parent #2 ?/? g.103514425C>T - ERCC5_000019 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.926C>T r.(?) p.(Pro309Leu)
16 Parent #2 -?/-? g.2121637C>T - TSC2_000051 rs372149311 - Germline - - - - 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 - Germline - - - - 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 rs199706010 - Germline - - - - 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 - Germline - - - - 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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