Individual #00021666

Reference -
Gender F
Geographic origin Ukraine
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     
0000013699 57y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001870 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.17349074C>T - SDHB_000001 rs41273161 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.765+29G>A r.(=) p.(=)
3 Parent #2 -/- g.10094159A>G - FANCD2_000019 rs145522204 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1634A>G, NM_033084.3:c.1634A>G r.(?) p.(Asn545Ser)
7 Parent #2 +?/+? g.66459197A>G - SBDS_000006 rs113993993 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.258+2T>C r.spl? p.?
10 Parent #2 -?/-? g.89653834C>T - PTEN_000006 rs150651961 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T r.(=) p.(=)
13 Parent #2 -/- g.49033812T>C - RB1_000053 rs201697122 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1961-12T>C r.(=) p.(=)
16 Parent #2 -?/-? g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3815-15G>A, NM_001077183.1:c.3682+623G>A, NM_001114382.1:c.3814+623G>A r.(=) p.(=)
16 Parent #2 -/- g.2134508G>T - TSC2_000074 rs45474795 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4285G>T, NM_001077183.1:c.4084G>T, NM_001114382.1:c.4216G>T r.(?) p.(Ala1429Ser), p.(Ala1362Ser), p.(Ala1406Ser)
17 Parent #2 -?/-? g.17119725G>A - FLCN_000001 rs41464156 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*4968C>T, NM_144997.5:c.1269C>T r.(=) p.(=)
17 Parent #2 ?/? g.17120472T>C - FLCN_000051 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*4221A>G, NM_144997.5:c.1087A>G r.(=), r.(?) p.(=), p.(Met363Val)
Legend