Individual #00021574

Reference -
Gender F
Geographic origin -
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     
0000013504 49y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001757 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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.47702458T>G - MSH2_000039 - - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2005+49T>G, NM_001258281.1:c.1807+49T>G r.(=) p.(=)
2 Parent #2 ?/? g.233199086G>A - DIS3L2_000084 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8969G>A, NM_152383.4:c.2166G>A r.(=) p.(=)
8 Parent #2 -?/-? g.30924558A>C - WRN_000040 rs367991517 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.514A>C r.(?) p.(Thr172Pro)
9 Parent #2 -?/-? g.98209585G>A - PTCH1_000039 rs536440590 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3953C>T, NM_001083602.1:c.3755C>T, NM_001083603.1:c.3950C>T, NM_001083604.1:c.3500C>T, NM_001083605.1:c.3500C>T, NM_001083606.1:c.3500C>T, NM_001083607.1:c.3500C>T r.(?) p.(Pro1318Leu), p.(Pro1252Leu), p.(Pro1317Leu), p.(Pro1167Leu)
9 Parent #2 ./. g.110888438G>A - chr9_000006 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -/- g.72357857T>C - PRF1_000001 rs149776121 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1620A>G, NM_005041.4:c.1620A>G r.(=) p.(=)
16 Parent #2 ?/? g.2103372C>T - TSC2_000039 rs45517098 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 ?/? g.2129467C>T - TSC2_000268 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3284+38C>T, NM_001077183.1:c.3152+38C>T, NM_001114382.1:c.3284+38C>T r.(=) p.(=)
16 Parent #2 -/- g.2131729C>T - TSC2_000270 rs45517307 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3744C>T, NM_001077183.1:c.3612C>T, NM_001114382.1:c.3744C>T r.(=) p.(=)
17 Parent #2 ./. g.25541317C>T - chr17_000002 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 -?/-? g.41245670T>C - BRCA1_000127 rs8176154 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1878A>G, NM_007297.3:c.1737A>G, NM_007298.3:c.787+1091A>G, NM_007299.3:c.787+1091A>G, NM_007300.3:c.1878A>G r.(=) p.(=)
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