Individual #00021715

Reference -
Gender F
Geographic origin Pontus/ Kilkis
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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013759 59y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001932 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     
2 Parent #2 ./. g.48027755T>C - MSH6_000008 rs2020912 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
4 Parent #2 ./. g.55597987C>T - KIT_000009 rs72549295 - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2234-50C>T, NM_001093772.1:c.2222-50C>T r.(=) p.(=)
6 Parent #2 ./. g.32578071G>A - chr6_000017 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.21938242C>T - chr7_000005 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.98231279G>A - PTCH1_000045 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2004C>T, NM_001083602.1:c.1806C>T, NM_001083603.1:c.2001C>T, NM_001083604.1:c.1551C>T, NM_001083605.1:c.1551C>T, NM_001083606.1:c.1551C>T, NM_001083607.1:c.1551C>T r.(=) p.(=)
10 Parent #2 ./. g.43596057C>T - RET_000068 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.224C>T, NM_020975.4:c.224C>T r.(?) p.(Thr75Met)
13 Parent #2 ./. g.32912008G>A - BRCA2_000024 rs1799952 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3516G>A r.(=) p.(=)
15 Parent #2 ./. g.89819931T>C - FANCI_000122 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1113-11T>C, NM_018193.2:c.1113-11T>C r.(=) p.(=)
16 Parent #2 ./. g.2115573C>T - TSC2_000295 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1653C>T, NM_001077183.1:c.1653C>T, NM_001114382.1:c.1653C>T r.(=) p.(=)
16 Parent #2 ./. g.2134492G>A - TSC2_000124 rs45438898 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4269G>A, NM_001077183.1:c.4068G>A, NM_001114382.1:c.4200G>A r.(=) p.(=)
Legend