Individual #00021772

Reference -
Gender F
Geographic origin Kyllini, Elis & Asia Minor
Geographic origin Achaea
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     
0000013607 53y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002047 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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.233128021G>A - DIS3L2_000100 rs368059860 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1530G>A, NM_152383.4:c.1530G>A r.(=) p.(=)
4 Parent #2 -?/-? g.41747805G>T - PHOX2B_000026 rs770841700 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.*19C>A r.(=) p.(=)
4 Parent #2 -?/-? g.41747806C>T - PHOX2B_000025 rs776498322 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.*18G>A r.(=) p.(=)
5 Parent #2 -?/-? g.176562950A>C - NSD1_000098 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.846A>C, NM_172349.2:c.39A>C r.(=) p.(=)
9 Parent #2 -?/-? g.98209410G>A - PTCH1_000004 rs142148876 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4128C>T, NM_001083602.1:c.3930C>T, NM_001083603.1:c.4125C>T, NM_001083604.1:c.3675C>T, NM_001083605.1:c.3675C>T, NM_001083606.1:c.3675C>T, NM_001083607.1:c.3675C>T r.(=) p.(=)
10 Parent #2 -?/-? g.89690764A>G - PTEN_000007 rs370918174 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
11 Parent #2 ?/? g.44146315A>G - EXT2_000012 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.843-24A>G, NM_001178083.1:c.744-24A>G, NM_207122.1:c.744-24A>G r.(=) p.(=)
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
16 Parent #2 -?/-? g.3651132C>T - SLX4_000157 rs778310070 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1011G>A r.(=) p.(=)
16 Parent #2 ?/? g.50828072C>T - CYLD_000020 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-51C>T, NM_001042412.1:c.2461-51C>T, NM_015247.2:c.2470-51C>T r.(=) p.(=)
16 Parent #2 ?/? g.68853185A>G - CDH1_000060 rs553907248 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1568A>G r.(?) p.(Tyr523Cys)
17 Parent #2 -/- g.74475014C>T - RHBDF2_000062 rs3744044 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.546G>A, NM_024599.5:c.633G>A r.(=) p.(=)
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