Individual #00021885

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     

OvCa FH     

Subtype     

Owner     
0000013835 63y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002244 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
1 Parent #2 ./. g.121280606C>T - chr1_000002 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ?/? g.190717541A>C - PMS1_000048 rs367952807 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.822+38A>C, NM_001128143.1:c.705+38A>C, NM_001128144.1:c.822+38A>C r.(=) p.(=)
7 Parent #2 ?/? g.116436095C>T - MET_000006 rs765332671 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.4090C>T, NM_001127500.1:c.4144C>T r.(?) p.(Pro1364Ser), p.(Pro1382Ser)
8 Parent #2 -?/-? g.118825102G>A - EXT1_000014 rs371055794 - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1722+9C>T r.(=) p.(=)
9 Parent #2 ?/? g.98242863G>A - PTCH1_000122 rs751223274 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.754C>T, NM_001083602.1:c.556C>T, NM_001083603.1:c.751C>T, NM_001083604.1:c.301C>T, NM_001083605.1:c.301C>T, NM_001083606.1:c.301C>T, NM_001083607.1:c.301C>T r.(?) p.(Pro252Ser), p.(Pro186Ser), p.(Pro251Ser), p.(Pro101Ser)
12 Parent #2 ?/? g.58144942A>G - CDK4_000005 - - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.354+48T>C r.(=) p.(=)
13 Parent #2 ?/? g.103514350A>G - ERCC5_000018 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.881-30A>G r.(=) p.(=)
16 Parent #2 -?/-? g.68835754G>A - CDH1_000006  rs1801023 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
17 Parent #2 ?/? g.29554492T>G - NF1_000088 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2326-49T>G, NM_001042492.2:c.2326-49T>G, NM_001128147.2:c.*5484T>G r.(=) p.(=)
22 Parent #2 ?/? g.29083837T>A - CHEK2_000032 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*48A>T, NM_001257387.1:c.*48A>T, NM_007194.3:c.*48A>T, NM_145862.2:c.*48A>T r.(=) p.(=)
Legend