Individual #00021196

Reference -
Gender F
Geographic origin Ioannina
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ENC, OVCA
Owner name Despoina Kalfakakou


Phenotypes

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013313 40y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013312 40y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000302 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     
1 Parent #2 ?/? g.161293506G>C - SDHC_000003 - - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+46G>C, NM_001035512.1:c.77+46G>C, NM_001035513.1:c.20+9291G>C, NM_001278172.1:c.77+46G>C, NM_003001.3:c.77+46G>C r.(=) p.(=)
1 Parent #2 ?/? g.161293510G>C - SDHC_000004 - - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+50G>C, NM_001035512.1:c.77+50G>C, NM_001035513.1:c.20+9295G>C, NM_001278172.1:c.77+50G>C, NM_003001.3:c.77+50G>C r.(=) p.(=)
2 Parent #2 ?/? g.233198591G>A - DIS3L2_000031 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-9464G>A, NM_152383.4:c.2052G>A r.(=) p.(=)
3 Parent #2 ?/? g.10088394C>G - FANCD2_000016 rs765378218 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1265C>G, NM_033084.3:c.1265C>G r.(?) p.(Ser422Cys)
4 Parent #2 -?/-? g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.726A>G r.(=) p.(=)
7 Parent #2 ?/? g.55269520A>G - EGFR_000009 rs41446045 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
10 Parent #2 ?/? g.72360349G>A - PRF1_000012 - - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.310C>T, NM_005041.4:c.310C>T r.(?) p.(Arg104Cys)
11 Parent #2 -/- g.64572560C>T - MEN1_000003 rs138770431 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1311G>A, NM_130799.2:c.1296G>A, NM_130800.2:c.1311G>A, NM_130801.2:c.1311G>A, NM_130802.2:c.1311G>A, NM_130803.2:c.1311G>A, NM_130804.2:c.1311G>A r.(=) p.(=)
11 Parent #2 -?/-? g.108150365_108150367del - ATM_000032 rs545376366 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3402+30_3402+32del r.(=) p.(=)
12 Parent #2 ?/? g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
16 Parent #2 -?/-? g.23637756G>C - PALB2_000004 rs180177119 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2587-38C>G r.(=) p.(=)
16 Parent #2 ?/? g.89857982G>A - FANCA_000047 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1226-38C>T r.(=) p.(=)
17 Parent #2 -?/-? g.59821814T>C - BRIP1_000020 rs111536363 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2236A>G r.(?) p.(Ile746Val)
X Parent #2 ?/? g.14883506A>T - FANCB_000012 - - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.127T>A, NM_152633.2:c.127T>A r.(?) p.(Leu43Ile)
X Parent #2 ?/? g.132826549A>G - GPC3_000002 - - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1236-27T>C, NM_001164618.1:c.1119-27T>C, NM_001164619.1:c.1005-27T>C, NM_004484.3:c.1167-27T>C r.(=) p.(=)
Legend