Individual #00021583

Reference -
Gender F
Geographic origin Thrace & Epirus
Geographic origin İzmir
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     
0000013999 75y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001766 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.190738210T>C - PMS1_000017 rs201993417 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2474-12T>C, NM_001128143.1:c.2357-12T>C, NM_001128144.1:c.1988-12T>C r.(=) p.(=)
3 Parent #2 ?/? g.10130463G>A - FANCD2_000118 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3561-49G>A, NM_033084.3:c.3561-49G>A r.(=) p.(=)
8 Parent #2 ?/? g.145742537C>T - RECQL4_000188 rs745596664 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.251G>A - p.?
9 Parent #2 ?/? g.97934476A>G - FANCC_000013 - - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.346-47T>C, NM_001243743.1:c.346-47T>C, NM_001243744.1:c.346-47T>C r.(=) p.(=)
9 Parent #2 -?/-? g.135772977G>A - TSC1_000001 rs118203720 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2646C>T, NM_001162426.1:c.2643C>T, NM_001162427.1:c.2493C>T r.(=) p.(=)
11 Parent #2 ?/? g.22647116C>A - FANCF_000002 rs145057187 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
11 Parent #2 -/- g.108127089A>C - ATM_000042 rs3218692 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2250+22A>C r.(=) p.(=)
11 Parent #2 -/- g.108127101A>C - ATM_000043 rs3218705 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2250+34A>C r.(=) p.(=)
13 Parent #2 -/- g.32893207T>A - BRCA2_000028 rs81002830 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.68-7T>A r.(=) p.(=)
14 Parent #2 ./. g.95578606C>T - DICER1_000083 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.2041-22G>A, NM_001271282.1:c.2041-22G>A, NM_030621.3:c.2041-22G>A, NM_177438.2:c.2041-22G>A r.(=) p.(=)
14 Parent #2 ?/? g.95590658A>C - DICER1_000084 rs899404083 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.1251T>G, NM_001271282.1:c.1251T>G, NM_030621.3:c.1251T>G, NM_177438.2:c.1251T>G r.(?) p.(Asp417Glu)
16 Parent #2 -?/-? g.68835754G>A - CDH1_000006  rs1801023 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
16 Parent #2 ?/? g.89842199C>T - FANCA_000188 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1851G>A r.(=) p.(=)
Legend