Individual #00016902

Reference -
Gender F
Geographic origin Karditsa
Geographic origin Russia
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     
0000009182 35y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000650 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     
3 Parent #2 ?/? g.14189485C>T - XPC_000019 rs371576722 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2326G>A, NM_004628.4:c.2437G>A r.(?) p.(Val776Ile), p.(Val813Ile)
3 Parent #2 ?/? g.52443827C>G - BAP1_000031 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.37+31G>C r.(=) p.(=)
6 Parent #2 ?/? g.35426240_35426241insC - FANCE_000010 - - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1113+23_1113+24insC r.(=) p.(=)
7 Parent #2 ?/? g.55269520A>G - EGFR_000009 rs41446045 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
8 Parent #2 ?/? g.145741123C>A - RECQL4_000098 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1258+25G>T - p.?
12 Parent #2 ./. g.112241811G>T - chr12_000003 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 -?/-? g.95570238G>A - DICER1_000032 rs372581591 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.3495C>T, NM_001271282.1:c.3495C>T, NM_030621.3:c.3495C>T, NM_177438.2:c.3495C>T r.(=) p.(=)
16 Parent #2 -/- g.2134508G>T - TSC2_000074 rs45474795 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4285G>T, NM_001077183.1:c.4084G>T, NM_001114382.1:c.4216G>T r.(?) p.(Ala1429Ser), p.(Ala1362Ser), p.(Ala1406Ser)
16 Parent #2 ?/? g.68835823C>T - CDH1_000007 rs33932809 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.387+27C>T r.(=) p.(=)
17 Parent #2 ?/? g.29677169A>T - NF1_000183 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7259-32A>T, NM_001042492.2:c.7322-32A>T r.(=) p.(=)
Legend