Individual #00016782

Reference -
Gender F
Geographic origin Agrinio
Geographic origin Germany
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     
0000009026 42y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000477 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.17355218A>G - SDHB_000003 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ?/? g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-43T>C r.(=) p.(=)
13 Parent #2 -/- g.32937521G>A - BRCA2_000078 rs28897749 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8182G>A r.(?) p.(Val2728Ile)
17 Parent #2 -?/-? g.17122436C>T - FLCN_000021  rs143483053 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*2257G>A, NM_144997.5:c.959G>A r.(=), r.(?) p.(=), p.(Arg320Gln)
17 Parent #2 ?/? g.74470000A>T - RHBDF2_000013 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1575-16T>A, NM_024599.5:c.1662-16T>A r.(=) p.(=)
22 Parent #2 -?/-? g.29091178C>A - CHEK2_000012 rs200050883 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1441G>T, NM_001257387.1:c.649G>T, NM_007194.3:c.1312G>T, NM_145862.2:c.1225G>T r.(?) p.(Asp481Tyr), p.(Asp217Tyr), p.(Asp438Tyr), p.(Asp409Tyr)
Legend