Individual #00016262

Reference -
Gender F
Geographic origin Nea Artaki, Chalkida
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     
0000008259 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000049 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.17349074C>T - SDHB_000001 rs41273161 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.765+29G>A r.(=) p.(=)
8 Parent #2 -/- g.30921954G>C - WRN_000020 rs145764920 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.355+4G>C r.spl? p.?
10 Parent #2 -?/-? g.89653834C>T - PTEN_000006 rs150651961 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T r.(=) p.(=)
12 Parent #2 ?/? g.58144768C>G - CDK4_000004 rs563692823 - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.460G>C r.(?) p.(Val154Leu)
13 Parent #2 -?/-? g.32911565A>G - BRCA2_000023 rs80358550 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3073A>G r.(?) p.(Lys1025Glu)
13 Parent #2 ?/? g.103510638A>G - ERCC5_000006 rs4150295 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.542A>G r.(?) p.(His181Arg)
14 Parent #2 ?/? g.95598922T>C - DICER1_000008 - - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.237A>G, NM_001271282.1:c.237A>G, NM_030621.3:c.237A>G, NM_177438.2:c.237A>G r.(=) p.(=)
15 Parent #2 ?/? g.91346712G>A - BLM_000013 - - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3359-39G>A r.(=) p.(=)
19 Parent #2 ?/? g.45867668G>A - ERCC2_000013 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.718+14C>T, NM_001130867.1:c.646+14C>T r.(=) p.(=)
Legend