Individual #00021259

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     
0000013770 60y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000551 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     
3 Parent #2 ?/? g.14219932G>C - XPC_000010 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.103+34C>G, NM_004628.4:c.103+34C>G r.(=) p.(=)
7 Parent #2 -?/-? g.6017190G>A - PMS2_000055 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2445+29C>T r.(=) p.(=)
7 Parent #2 ?/? g.6048597G>A - PMS2_000054 rs371201653 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.23+31C>T r.(=) p.(=)
8 Parent #2 ?/? g.30948094_30948095del - WRN_000005 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1720+46_1720+47del r.(=) p.(=)
11 Parent #2 ?/? g.67250737C>G - AIP_000012 - - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.99+9C>G r.(=) p.(=)
11 Parent #2 ?/? g.67254459C>T - AIP_000007 rs202156895 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.100-18C>T r.(=) p.(=)
13 Parent #2 ?/? g.103514630T>A - ERCC5_000007 rs764744058 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1131T>A r.(=) p.(=)
16 Parent #2 ?/? g.2100512_2100513del - TSC2_000115 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.225+25_225+26del, NM_001077183.1:c.225+25_225+26del, NM_001114382.1:c.225+25_225+26del r.(=) p.(=)
16 Parent #2 -?/-? g.23632772G>A - PALB2_000034 rs180177130 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.3024C>T r.(=) p.(=)
16 Parent #2 -?/-? g.68771326C>G - CDH1_000035 rs587782484 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.8C>G r.(?) p.(Pro3Arg)
17 Parent #2 ?/? g.59820468C>T - BRIP1_000031 rs200960251 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2285G>A r.(?) p.(Arg762His)
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