Individual #00016803

Reference -
Gender F
Geographic origin -
Geographic origin -
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     
0000009057 39y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000508 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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     
3 Parent #2 ?/? g.10114526A>G - FANCD2_000054 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2495-29A>G, NM_033084.3:c.2495-29A>G r.(=) p.(=)
3 Parent #2 -?/-? g.37035168C>G - MLH1_000053 rs773103242 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.116+14C>G, NM_001167617.1:c.-387C>G, NM_001167618.1:c.-816C>G, NM_001167619.1:c.-729C>G, NM_001258271.1:c.116+14C>G, NM_001258273.1:c.-517+14C>G, NM_001258274.1:c.-966C>G r.(=) p.(=)
4 Parent #2 -?/-? g.41747993_41748031del - PHOX2B_000008 rs757020181 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.738_776del r.(?) p.(Ala248_Ala260del)
8 Parent #2 ?/? g.30942799T>C - WRN_000027 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1431+37T>C r.(=) p.(=)
16 Parent #2 ?/? g.2132410G>A - TSC2_000099 rs137854008 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3815-27G>A, NM_001077183.1:c.3682+611G>A, NM_001114382.1:c.3814+611G>A r.(=) p.(=)
16 Parent #2 ?/? g.50828088C>T - CYLD_000003 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-35C>T, NM_001042412.1:c.2461-35C>T, NM_015247.2:c.2470-35C>T r.(=) p.(=)
16 Parent #2 ?/? g.89813346C>T - FANCA_000037 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3349-48G>A r.(=) p.(=)
17 Parent #2 -?/-? g.7579599G>A - TP53_000003 rs202217267 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.97-9C>T, NM_001126112.2:c.97-9C>T, NM_001126113.2:c.97-9C>T, NM_001126114.2:c.97-9C>T, NM_001126115.1:c.-1066C>T, NM_001126116.1:c.-1066C>T, NM_001126117.1:c.-1066C>T, NM_001126118.1:c.-21-9C>T, NM_001276695.1:c.-21-9C>T, NM_001276696.1:c.-21-9C>T, NM_001276697.1:c.-1147C>T, NM_001276698.1:c.-1147C>T, NM_001276699.1:c.-1147C>T, NM_001276760.1:c.-21-9C>T, NM_001276761.1:c.-21-9C>T r.(=) p.(=)
17 Parent #2 ?/? g.29483144G>A - NF1_000153 rs1441153485 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.204G>A, NM_001042492.2:c.204G>A, NM_001128147.2:c.204G>A r.(?) p.(Met68Ile)
17 Parent #2 ?/? g.29679301C>T - NF1_000142 rs757245615 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7421C>T, NM_001042492.2:c.7484C>T r.(?) p.(Ser2474Phe), p.(Ser2495Phe)
22 Parent #2 -?/-? g.24145563G>A - SMARCB1_000008 rs759241720 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.555G>A, NM_003073.3:c.582G>A r.(=) p.(=)
22 Parent #2 -?/-? g.30070871G>A - NF2_000011 rs74315503 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1387G>A, NM_016418.5:c.1387G>A, NM_181825.2:c.1387G>A, NM_181828.2:c.1261G>A, NM_181829.2:c.1264G>A, NM_181830.2:c.1138G>A, NM_181831.2:c.1138G>A, NM_181832.2:c.1387G>A, NM_181833.2:c.448-19870G>A r.(?), r.(=) p.(Glu463Lys), p.(Glu421Lys), p.(Glu422Lys), p.(Glu380Lys), p.(=)
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