Individual #00021768

Reference -
Gender F
Geographic origin Heraklion, Crete & Asia Minor
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     
0000013333 41y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002044 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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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 #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
7 Parent #2 ?/? g.55248952G>A - EGFR_000046 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2284-34G>A r.(=) p.(=)
10 Parent #2 -?/-? g.43604573G>A - RET_000027 rs373540097 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1158G>A, NM_020975.4:c.1158G>A r.(=) p.(=)
11 Parent #2 -?/-? g.108188136G>A - ATM_000006 rs1800060 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6235G>A r.(?) p.(Val2079Ile)
11 Parent #2 -?/-? g.108236279A>G - ATM_000008 rs55900855 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.*44A>G r.(=) p.(=)
14 Parent #2 ?/? g.45639981del - FANCM_000064 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2160+32del r.(=) p.(=)
17 Parent #2 ?/? g.33446502A>T - RAD51D_000025 - - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.82+49T>A, NM_002878.3:c.82+49T>A, NM_133629.2:c.82+49T>A r.(=) p.(=)
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