Individual #00021719

Reference -
Gender F
Geographic origin Bulgaria
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     
0000013369 43y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001938 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     
1 Parent #2 ./. g.222045423C>G - chr1_000003 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ?/? g.10084881C>T - FANCD2_000024 rs36080989 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.989+47C>T, NM_033084.3:c.989+47C>T r.(=) p.(=)
8 Parent #2 -/- g.30916058A>G - WRN_000019 rs34477820 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.95A>G r.(?) p.(Lys32Arg)
10 Parent #2 ?/? g.43615578G>A - RET_000057 rs373594744 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2657G>A, NM_020975.4:c.2657G>A r.(?) p.(Arg886Gln)
11 Parent #2 ?/? g.32456520C>T - WT1_000034 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.372G>A, NM_001198551.1:c.-4435G>A, NM_001198552.1:c.-4435G>A, NM_024424.3:c.372G>A, NM_024426.4:c.372G>A r.(=) p.(=)
11 Parent #2 ?/? g.67257476G>A - AIP_000032 - - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.469-33G>A r.(=) p.(=)
15 Parent #2 -?/-? g.91292843G>A - BLM_000091 rs374578971 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.345G>A r.(=) p.(=)
15 Parent #2 ?/? g.91292866A>G - BLM_000092 rs371223446 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.368A>G r.(?) p.(Gln123Arg)
16 Parent #2 ?/? g.89837055A>G - FANCA_000147 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2152-13T>C r.(=) p.(=)
17 Parent #2 ?/? g.33428027A>T Konstanta et al (2018) RAD51D_000010 rs145309168 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.992T>A, NM_002878.3:c.932T>A, NM_133629.2:c.596T>A r.(?) p.(Ile331Asn), p.(Ile311Asn), p.(Ile199Asn)
Legend