Individual #00021683

Reference -
Gender F
Geographic origin Kozani
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     
0000013678 56y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001891 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.702+10T>G, NM_001257282.1:c.712T>G, NM_152383.4:c.702+10T>G r.(=), r.(?) p.(=), p.(Tyr238Asp)
2 Parent #2 ?/? g.233198716G>C - DIS3L2_000020 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-9339G>C, NM_152383.4:c.2158+19G>C r.(=) p.(=)
9 Parent #2 -?/-? g.98239024_98239026del - PTCH1_000027 rs528001004 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1602+15_1602+17del, NM_001083602.1:c.1404+15_1404+17del, NM_001083603.1:c.1599+15_1599+17del, NM_001083604.1:c.1149+15_1149+17del, NM_001083605.1:c.1149+15_1149+17del, NM_001083606.1:c.1149+15_1149+17del, NM_001083607.1:c.1149+15_1149+17del r.(=) p.(=)
10 Parent #2 -?/-? g.104357064C>T - SUFU_000003 rs202247757 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.910+14C>T, NM_016169.3:c.910+14C>T r.(=) p.(=)
11 Parent #2 ?/? g.32456784C>G - WT1_000005 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.108G>C, NM_001198551.1:c.-4699G>C, NM_001198552.1:c.-4699G>C, NM_024424.3:c.108G>C, NM_024426.4:c.108G>C r.(=) p.(=)
13 Parent #2 -?/-? g.32899271T>A - BRCA2_000212 rs80358616 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.375T>A r.(?) p.(Asp125Glu)
18 Parent #2 ./. g.46453484G>C - chr18_000003 - - - - - - - Despoina Kalfakakou - - - -
X Parent #2 -/- g.132826530A>G - GPC3_000003 rs182950534 - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1236-8T>C, NM_001164618.1:c.1119-8T>C, NM_001164619.1:c.1005-8T>C, NM_004484.3:c.1167-8T>C r.(=) p.(=)
Legend