Individual #00016287

Reference -
Gender F
Geographic origin Drama
Geographic origin Giannitsa
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     
0000008292 46y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000057 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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.45800190C>T - MUTYH_000003 rs780029247 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.37-7G>A, NM_001048172.1:c.-6-7G>A, NM_001048173.1:c.-6-7G>A, NM_001048174.1:c.-6-7G>A, NM_001128425.1:c.37-7G>A, NM_012222.2:c.37-7G>A r.(=) p.(=)
2 Parent #2 -?/-? g.47643476C>T - MSH2_000010 rs4987189 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.984C>T, NM_001258281.1:c.786C>T r.(=) p.(=)
3 Parent #2 ?/? g.10084881C>T - FANCD2_000024 rs36080989 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.989+47C>T, NM_033084.3:c.989+47C>T r.(=) p.(=)
15 Parent #2 -/- g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1722A>G r.(=) p.(=)
16 Parent #2 -?/-? g.3640450G>A - SLX4_000015 rs200742809 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3189C>T r.(=) p.(=)
17 Parent #2 ?/? g.56787224G>A - RAD51C_000003 rs370393672 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.710G>A r.(?) p.(Arg237Gln)
Legend