Individual #00021856

Reference -
Gender F
Geographic origin Russia & Asia Minor
Geographic origin Drama
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     
0000013873 65y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002171 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.47643476C>T - MSH2_000010 rs4987189 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.984C>T, NM_001258281.1:c.786C>T r.(=) p.(=)
4 Parent #2 ?/? g.55597987C>T - KIT_000009 rs72549295 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2234-50C>T, NM_001093772.1:c.2222-50C>T r.(=) p.(=)
8 Parent #2 -?/-? g.145741168G>C - RECQL4_000025 rs560681030 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1238C>G - p.?
8 Parent #2 -?/-? g.145741169C>T - RECQL4_000026 rs531310005 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1237G>A - p.?
9 Parent #2 -?/-? g.98222018G>A - PTCH1_000118 rs768127089 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2751C>T, NM_001083602.1:c.2553C>T, NM_001083603.1:c.2748C>T, NM_001083604.1:c.2298C>T, NM_001083605.1:c.2298C>T, NM_001083606.1:c.2298C>T, NM_001083607.1:c.2298C>T r.(=) p.(=)
10 Parent #2 -?/-? g.43622095A>G - RET_000015 rs201740483 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.3112A>G, NM_020975.4:c.3112A>G r.(?) p.(Thr1038Ala)
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.108143331T>C - ATM_000217 rs3092859 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3150T>C r.(=) p.(=)
13 Parent #2 ./. g.73916659C>T - chr13_000003 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ?/? g.89807888T>C - FANCI_000131 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.755+50T>C, NM_018193.2:c.755+50T>C r.(=) p.(=)
16 Parent #2 ?/? g.2121610G>A - TSC2_000309 rs45509392 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1939G>A, NM_001077183.1:c.1939G>A, NM_001114382.1:c.1939G>A r.(?) p.(Asp647Asn)
Legend