Individual #00021556

Reference -
Gender F
Geographic origin -
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     
0000013724 58y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001734 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     
3 Parent #2 ?/? g.10123184A>G - FANCD2_000121 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3224+36A>G, NM_033084.3:c.3224+36A>G r.(=) p.(=)
3 Parent #2 -/- g.37067102T>A - MLH1_000007 rs1360955428 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-26T>A, NM_001167617.1:c.745-26T>A, NM_001167618.1:c.316-26T>A, NM_001167619.1:c.316-26T>A, NM_001258271.1:c.1039-26T>A, NM_001258273.1:c.316-26T>A, NM_001258274.1:c.316-26T>A r.(=) p.(=)
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
7 Parent #2 ?/? g.148516722T>C - EZH2_000007 - - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.950A>G, NM_001203248.1:c.923A>G, NM_001203249.1:c.923A>G, NM_004456.4:c.965A>G, NM_152998.2:c.833A>G r.(?) p.(Asn317Ser), p.(Asn308Ser), p.(Asn322Ser), p.(Asn278Ser)
9 Parent #2 ?/? g.35077114G>T - FANCG_000033 - - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.647-16C>A r.(=) p.(=)
10 Parent #2 -?/-? g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.430+25G>A r.(=) p.(=)
12 Parent #2 ./. g.125320832C>T - chr12_000002 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ?/? g.103518949C>T - ERCC5_000029 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2320-33C>T r.(=) p.(=)
17 Parent #2 ?/? g.59924512C>T - BRIP1_000004 rs4988346 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.577G>A r.(?) p.(Val193Ile)
19 Parent #2 -?/-? g.1220466G>A - STK11_000041 rs587782032 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.559G>A r.(?) p.(Gly187Ser)
Legend