Individual #00016589

Reference -
Gender F
Geographic origin Valimitika, Aigio
Geographic origin Kymi, Evia
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008739 42y - - Ductal In Situ III N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000285 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.193181175_193181176insT - CDC73_000010 - - - - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.1031-20_1031-19insT r.(=) p.(=)
2 Parent #2 ./. g.47600696C>A - EPCAM_000013 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.171C>A r.(=) p.(=)
2 Parent #2 ./. g.190656531C>A - PMS1_000019 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.-5C>A, NM_001128143.1:c.-5C>A, NM_001128144.1:c.-5C>A r.(=) p.(=)
3 Parent #2 ./. g.14208787G>C - XPC_000016 rs55644336 - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.426-34C>G, NM_004628.4:c.537-34C>G r.(=) p.(=)
8 Parent #2 ./. g.30916786G>C - WRN_000047 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.209+5G>C r.spl? p.?
10 Parent #2 ./. g.72358477C>T - PRF1_000002 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1000G>A, NM_005041.4:c.1000G>A r.(?) p.(Gly334Ser)
16 Parent #2 ./. g.2103372C>T - TSC2_000039 rs45517098 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 ./. g.2138086C>A - TSC2_000033 rs45483700 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5106C>A, NM_001077183.1:c.4905C>A, NM_001114382.1:c.5037C>A r.(=) p.(=)
16 Parent #2 ./. g.89813346C>T - FANCA_000037 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3349-48G>A r.(=) p.(=)
16 Parent #2 ./. g.89877086G>A - FANCA_000051 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.522+29C>T, NM_001018112.1:c.522+29C>T r.(=) p.(=)
22 Parent #2 ./. g.29130488del - CHEK2_000029 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.222del, NM_001257387.1:c.-556del, NM_007194.3:c.222del, NM_145862.2:c.222del r.(=), r.(?) p.(Pro75Leufs*62), p.(=), p.(Pro75Leufs*35)
Legend