Individual #00021807

Reference -
Gender F
Geographic origin Philippines
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     
0000013608 53y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002099 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.47600684A>C - EPCAM_000046 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.159A>C r.(=) p.(=)
6 Parent #2 ./. g.35425760A>G - FANCE_000048 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.968A>G r.(?) p.(Gln323Arg)
8 Parent #2 ./. g.30946519T>C - WRN_000124 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1652+38T>C r.(=) p.(=)
10 Parent #2 ./. g.43606856G>A - RET_000046 rs9282834 - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.1465G>A, NM_020975.4:c.1465G>A r.(?) p.(Asp489Asn)
11 Parent #2 ./. g.44228488C>T - EXT2_000004 rs75987184 - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1740C>T, NM_001178083.1:c.1671C>T, NM_207122.1:c.1641C>T r.(=) p.(=)
11 Parent #2 ./. g.108188089del - ATM_000222 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6199-11del r.(=) p.(=)
12 Parent #2 ./. g.51155644G>A - chr12_000024 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ./. g.32906977A>G - BRCA2_000222 rs55919657 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1362A>G r.(=) p.(=)
13 Parent #2 ./. g.32972280G>A - BRCA2_000016 rs11571830 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9649-19G>A r.(=) p.(=)
13 Parent #2 ./. g.32972761A>G - BRCA2_000223 rs80358393 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10111A>G r.(?) p.(Thr3371Ala)
16 Parent #2 ./. g.3642663C>T - SLX4_000159 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2327+37G>A r.(=) p.(=)
16 Parent #2 ./. g.14029073G>A - ERCC4_000015 rs3136151 - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1284G>A r.(=) p.(=)
16 Parent #2 ./. g.68849506C>T - CDH1_000062 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1409C>T r.(?) p.(Thr470Ile)
17 Parent #2 ./. g.7578159C>G - TP53_000033 - - - - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.672+18G>C, NM_001126112.2:c.672+18G>C, NM_001126113.2:c.672+18G>C, NM_001126114.2:c.672+18G>C, NM_001126115.1:c.276+18G>C, NM_001126116.1:c.276+18G>C, NM_001126117.1:c.276+18G>C, NM_001126118.1:c.555+18G>C, NM_001276695.1:c.555+18G>C, NM_001276696.1:c.555+18G>C, NM_001276697.1:c.195+18G>C, NM_001276698.1:c.195+18G>C, NM_001276699.1:c.195+18G>C, NM_001276760.1:c.555+18G>C, NM_001276761.1:c.555+18G>C r.(=) p.(=)
21 Parent #2 ./. g.43778891C>T - chr21_000003 - - - - - - - Despoina Kalfakakou - - - -
Legend