Individual #00021091

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     
0000013472 48y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000094 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
Legend  

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.48018312T>A - MSH6_000011 - - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.457+50T>A, NM_001281492.1:c.238-7438T>A, NM_001281493.1:c.-280+50T>A, NM_001281494.1:c.-446+50T>A r.(=) p.(=)
2 Parent #2 -/- g.190660536G>T - PMS1_000002 rs143323454 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.174G>T, NM_001128143.1:c.174G>T, NM_001128144.1:c.174G>T r.(=) p.(=)
2 Parent #2 -?/-? g.190660537G>A - PMS1_000003 rs143265397 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.175G>A, NM_001128143.1:c.175G>A, NM_001128144.1:c.175G>A r.(?) p.(Glu59Lys)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
7 Parent #2 -?/-? g.6048618C>G - PMS2_000018 rs192027828 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.23+10G>C r.(=) p.(=)
7 Parent #2 ?/? g.55269520A>G - EGFR_000009 rs41446045 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
11 Parent #2 -/- g.22646984C>T - FANCF_000001 rs61752920 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
15 Parent #2 ?/? g.89836161T>A - FANCI_000008 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2170-12T>A, NM_018193.2:c.2170-12T>A r.(=) p.(=)
16 Parent #2 -?/-? g.89815038G>A - FANCA_000026 rs1800348 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
22 Parent #2 ?/? g.29091238T>A - CHEK2_000001 rs863224747 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1389-8A>T, NM_001257387.1:c.597-8A>T, NM_007194.3:c.1260-8A>T, NM_145862.2:c.1173-8A>T r.(=) p.(=)
Legend