Individual #00017398

Reference -
Gender F
Geographic origin Arcadia
Geographic origin Laconia
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     
0000009860 50y - - - - Despoina Kalfakakou
0000009861 46y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001064 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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     
4 Parent #2 ?/? g.55602836T>C - KIT_000043 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2597-51T>C, NM_001093772.1:c.2585-51T>C r.(=) p.(=)
8 Parent #2 ?/? g.145743132C>A - RECQL4_000133 rs747356389 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.37G>T - p.?
11 Parent #2 -?/-? g.108170506A>C - ATM_000001 rs1800059 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5071A>C r.(?) p.(Ser1691Arg)
12 Parent #2 ?/? g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
16 Parent #2 -?/-? g.2134441C>T - TSC2_000191 rs886051794 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4218C>T, NM_001077183.1:c.4017C>T, NM_001114382.1:c.4149C>T r.(=) p.(=)
17 Parent #2 -?/-? g.17125886G>A - FLCN_000034 rs750394475 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.708C>T, NM_144997.5:c.708C>T r.(=) p.(=)
17 Parent #2 -?/-? g.41246889C>A - BRCA1_000092 rs781393191 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.671-12G>T, NM_007297.3:c.530-12G>T, NM_007298.3:c.671-12G>T, NM_007299.3:c.671-12G>T, NM_007300.3:c.671-12G>T r.(=) p.(=)
17 Parent #2 ?/? g.56772592_56772593del - RAD51C_000020 - - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.*38_*39del, NM_058216.2:c.404+42_404+43del r.(=) p.(=)
Legend