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     

OvCa FH     

Subtype     

Owner     
0000013608 53y - - 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 rs150562209 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.159A>C r.(=) p.(=)
6 Parent #2 ?/? g.35425760A>G - FANCE_000048 rs1034716031 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.968A>G r.(?) p.(Gln323Arg)
8 Parent #2 ?/? g.30946519T>C - WRN_000124 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1652+38T>C r.(=) p.(=)
10 Parent #2 -/- g.43606856G>A - RET_000046 rs9282834 - Germline - - - - 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 - Germline - - - - 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 - - Germline - - - - 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 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1362A>G r.(=) p.(=)
13 Parent #2 -/- g.32972280G>A - BRCA2_000016 rs11571830 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9649-19G>A r.(=) p.(=)
13 Parent #2 -?/-? g.32972761A>G - BRCA2_000223 rs80358393 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10111A>G r.(?) p.(Thr3371Ala)
16 Parent #2 ?/? g.3642663C>T - SLX4_000159 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2327+37G>A r.(=) p.(=)
16 Parent #2 -?/-? g.14029073G>A - ERCC4_000015 rs3136151 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1284G>A r.(=) p.(=)
16 Parent #2 -/- g.68849506C>T - CDH1_000062 rs370864592 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1409C>T r.(?) p.(Thr470Ile)
17 Parent #2 -?/-? g.7578159C>G - TP53_000033  rs199578278 - Germline - - - - 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