Individual #00016934

Reference -
Gender F
Geographic origin Arcadia
Geographic origin Athens
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     
0000009215 43y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000695 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     
1 Parent #2 -?/-? g.17380491G>A - SDHB_000004 rs148738139 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.24C>T r.(=) p.(=)
2 Parent #2 ?/? g.190719641A>G - PMS1_000030 rs61736576 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1643A>G, NM_001128143.1:c.1526A>G, NM_001128144.1:c.1643A>G r.(?) p.(Lys548Arg), p.(Lys509Arg)
2 Parent #2 ?/? g.233199473G>A - DIS3L2_000004 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
2 Parent #2 ?/? g.233199492A>G - DIS3L2_000023 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8563A>G, NM_152383.4:c.2394+47A>G r.(=) p.(=)
9 Parent #2 ?/? g.135777118G>A - TSC1_000032 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2392-32C>T, NM_001162426.1:c.2389-32C>T, NM_001162427.1:c.2239-32C>T r.(=) p.(=)
16 Parent #2 -?/-? g.2138500G>A - TSC2_000126 rs765607686 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5313G>A, NM_001077183.1:c.5112G>A, NM_001114382.1:c.5244G>A r.(=) p.(=)
16 Parent #2 -/- g.3640715G>A - SLX4_000018 rs114472821 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
16 Parent #2 -/- g.3645724C>T - SLX4_000019 rs149916101 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1925-30G>A r.(=) p.(=)
16 Parent #2 -/- g.3646275C>T - SLX4_000001 rs144892556 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1803G>A r.(=) p.(=)
16 Parent #2 -/- g.3646323G>A - SLX4_000002 rs114016359 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1755C>T r.(=) p.(=)
16 Parent #2 -?/-? g.89845197G>A - FANCA_000005 rs183513839 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1826+12C>T r.(=) p.(=)
17 Parent #2 ?/? g.29554281T>C - NF1_000018 rs863224657 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2297T>C, NM_001042492.2:c.2297T>C, NM_001128147.2:c.*5273T>C r.(?), r.(=) p.(Ile766Thr), p.(=)
Legend