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     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000013313 40y - - - - - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013312 40y - - I Endometrioid - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.726A>G r.(=) p.(=)
7 Parent #2 ./. g.55269520A>G - EGFR_000009 rs41446045 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
10 Parent #2 ./. g.72360349G>A - PRF1_000012 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3402+30_3402+32del r.(=) p.(=)
12 Parent #2 ./. g.121434317C>T - HNF1A_000001 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
16 Parent #2 ./. g.23637756G>C - PALB2_000004 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2587-38C>G r.(=) p.(=)
16 Parent #2 ./. g.89857982G>A - FANCA_000047 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1226-38C>T r.(=) p.(=)
17 Parent #2 ./. g.59821814T>C - BRIP1_000020 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2236A>G r.(?) p.(Ile746Val)
X Parent #2 ./. g.14883506A>T - FANCB_000012 - - - - - - - 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 - - - - - - - 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