Individual #00017087

Reference -
Gender F
Geographic origin Constantinople
Geographic origin Armenia
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000009429 58y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000810 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.193202204G>A - CDC73_000017 rs757006970 - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.1236G>A r.(?) p.(Met412Ile)
3 Parent #2 -/- g.14189426A>G - XPC_000038 rs201597537 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2385T>C, NM_004628.4:c.2496T>C r.(=) p.(=)
3 Parent #2 -/- g.14199940C>A - XPC_000002 rs182616621 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1332G>T, NM_004628.4:c.1443G>T r.(?) p.(Lys444Asn), p.(Lys481Asn)
5 Parent #2 ?/? g.112090602A>G - APC_000063 - - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.15A>G, NM_001127510.2:c.15A>G, NM_001127511.2:c.166-11421A>G r.(=) p.(=)
8 Parent #2 -?/-? g.145739416C>T - RECQL4_000041 rs61754061 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1954G>A - p.?
14 Parent #2 ?/? g.45645949C>T - FANCM_000050 rs149348098 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.3992C>T r.(?) p.(Pro1331Leu)
15 Parent #1 ?/? g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+42_975+43insG, NM_018193.2:c.975+42_975+43insG r.(=) p.(=)
15 Parent #2 ?/? g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+43del, NM_018193.2:c.975+43del r.(=) p.(=)
15 Parent #2 -/- g.89838176T>G - FANCI_000010 rs145762491 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2487T>G, NM_018193.2:c.2456+948T>G r.(=) p.(=)
Legend