Individual #00017796

Reference -
Gender F
Geographic origin Athens
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     
0000010507 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001799 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     
2 Parent #2 -?/-? g.232894712T>C - DIS3L2_000063 rs746032745 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.288T>C, NM_001257282.1:c.288T>C, NM_152383.4:c.288T>C r.(=) p.(=)
7 Parent #2 -?/-? g.116422030C>G - MET_000001 rs186524917 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.3523-12C>G, NM_001127500.1:c.3577-12C>G r.(=) p.(=)
7 Parent #2 ?/? g.148516722T>C - EZH2_000007 - - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.950A>G, NM_001203248.1:c.923A>G, NM_001203249.1:c.923A>G, NM_004456.4:c.965A>G, NM_152998.2:c.833A>G r.(?) p.(Asn317Ser), p.(Asn308Ser), p.(Asn322Ser), p.(Asn278Ser)
13 Parent #2 ?/? g.32953665A>G - BRCA2_000209 - - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8953+13A>G r.(=) p.(=)
13 Parent #2 ?/? g.103508379G>C - ERCC5_000050 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.468-23G>C r.(=) p.(=)
16 Parent #2 ?/? g.3632589G>C - SLX4_000140  rs144776083 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.5259C>G r.(?) p.(Asp1753Glu)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
22 Parent #2 ?/? g.30077634A>G - NF2_000037 - - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1737+44A>G, NM_016418.5:c.1737+44A>G, NM_181825.2:c.1737+44A>G, NM_181828.2:c.1611+44A>G, NM_181829.2:c.1614+44A>G, NM_181830.2:c.1488+44A>G, NM_181831.2:c.1488+44A>G, NM_181832.2:c.1737+44A>G, NM_181833.2:c.448-13107A>G r.(=) p.(=)
Legend