Individual #00021790

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin ─░zmir
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     
0000013872 65y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002075 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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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     
2 Parent #2 ?/? g.30143292C>T - ALK_000114 rs1338599727 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.234G>A r.(=) p.(=)
2 Parent #2 +/+ g.58386928_58386929insTAAT - FANCL_000006 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.1114_1115insATTA, NM_018062.3:c.1099_1100insATTA r.(?) p.(Thr372Asnfs*13), p.(Thr367Asnfs*13)
3 Parent #2 ?/? g.10103845C>T - FANCD2_000027 rs147523071 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1777C>T, NM_033084.3:c.1777C>T r.(?) p.(Pro593Ser)
7 Parent #2 +/+ g.66459273T>A - SBDS_000016 rs120074160 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.184A>T r.(?) p.(Lys62*)
7 Parent #2 ?/? g.66459274A>G - SBDS_000015 rs200346194 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.183T>C r.(=) p.(=)
13 Parent #2 -?/-? g.32954059C>T - BRCA2_000176 rs81002869 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9117+9C>T 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.30077523C>T - NF2_000041 - - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1670C>T, NM_016418.5:c.1670C>T, NM_181825.2:c.1670C>T, NM_181828.2:c.1544C>T, NM_181829.2:c.1547C>T, NM_181830.2:c.1421C>T, NM_181831.2:c.1421C>T, NM_181832.2:c.1670C>T, NM_181833.2:c.448-13218C>T r.(?), r.(=) p.(Ala557Val), p.(Ala515Val), p.(Ala516Val), p.(Ala474Val), p.(=)
Legend