Individual #00016248

Reference -
Gender F
Geographic origin Corfu
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 5
Diseases BrCa, OVCA
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000008239 64y - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000008240 64y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000043 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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.14209775G>A - XPC_000007 rs770955020 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.407C>T, NM_004628.4:c.518C>T r.(?) p.(Ala136Val), p.(Ala173Val)
3 Both (homozygous) -/- 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.37067103T>A - MLH1_000008 rs764852270 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-25T>A, NM_001167617.1:c.745-25T>A, NM_001167618.1:c.316-25T>A, NM_001167619.1:c.316-25T>A, NM_001258271.1:c.1039-25T>A, NM_001258273.1:c.316-25T>A, NM_001258274.1:c.316-25T>A r.(=) p.(=)
3 Parent #2 -?/-? g.37089130A>G - MLH1_000012 rs35001569 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1852A>G, NM_001167617.1:c.1558A>G, NM_001167618.1:c.1129A>G, NM_001167619.1:c.1129A>G, NM_001258271.1:c.1852A>G, NM_001258273.1:c.1129A>G, NM_001258274.1:c.1129A>G r.(?) p.(Lys618Glu), p.(Lys520Glu), p.(Lys377Glu)
3 Parent #2 -/- g.37089131A>C - MLH1_000015 rs63750449 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1853A>C, NM_001167617.1:c.1559A>C, NM_001167618.1:c.1130A>C, NM_001167619.1:c.1130A>C, NM_001258271.1:c.1853A>C, NM_001258273.1:c.1130A>C, NM_001258274.1:c.1130A>C r.(?) p.(Lys618Thr), p.(Lys520Thr), p.(Lys377Thr)
8 Parent #2 -/- g.145741787G>A - RECQL4_000031 rs146709578 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.716C>T - p.?
9 Parent #2 ?/? g.97873723T>G - FANCC_000010 - - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.1329+22A>C, NM_001243743.1:c.1329+22A>C, NM_001243744.1:c.1329+22A>C r.(=) p.(=)
10 Parent #2 ?/? g.43613908A>T - RET_000003 rs77724903 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2372A>T, NM_020975.4:c.2372A>T r.(?) p.(Tyr791Phe)
11 Parent #2 ?/? g.44219356C>T - EXT2_000003 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1405-23C>T, NM_001178083.1:c.1336-23C>T, NM_207122.1:c.1306-23C>T r.(=) p.(=)
X Parent #2 ./. g.51241669C>G - chrX_000003 - - - - - - - Despoina Kalfakakou - - - -
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