Individual #00021689

Reference -
Gender F
Geographic origin Kranidi, Argolis
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     
0000013531 50y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001899 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.37048539A>G - MLH1_000109 rs377279035 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.438A>G, NM_001167617.1:c.144A>G, NM_001167618.1:c.-286A>G, NM_001167619.1:c.-194A>G, NM_001258271.1:c.438A>G, NM_001258273.1:c.-286A>G, NM_001258274.1:c.-286A>G r.(=) p.(=)
5 Parent #2 -?/-? g.112137002C>T - APC_000108 rs771535363 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.756C>T, NM_001127510.2:c.756C>T, NM_001127511.2:c.702C>T r.(=) p.(=)
8 Parent #2 ?/? g.90983460G>A - NBN_000017 rs34767364 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.643C>T r.(?) p.(Arg215Trp)
8 Parent #2 ?/? g.118842444C>T - EXT1_000017 rs375754024 - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1284+25G>A r.(=) p.(=)
9 Parent #2 ?/? g.97912337C>T - FANCC_000012 rs370346767 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.554G>A, NM_001243743.1:c.554G>A, NM_001243744.1:c.554G>A r.(?) p.(Arg185Gln)
10 Parent #2 ?/? g.72358154G>A - PRF1_000039 rs1402212883 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1323C>T, NM_005041.4:c.1323C>T r.(=) p.(=)
10 Parent #2 -?/-? g.72358477C>T - PRF1_000002 rs145463632 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1000G>A, NM_005041.4:c.1000G>A r.(?) p.(Gly334Ser)
16 Parent #2 ?/? g.3641280C>T - SLX4_000043 rs140600202 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2359G>A r.(?) p.(Glu787Lys)
16 Parent #2 ?/? g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
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