Individual #00016846

Reference -
Gender F
Geographic origin Katerini
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     
0000009109 48y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000573 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
5 Parent #2 -?/-? g.112179153C>G - APC_000015 rs72541816 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.7862C>G, NM_001127510.2:c.7862C>G, NM_001127511.2:c.7808C>G r.(?) p.(Ser2621Cys), p.(Ser2603Cys)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
10 Parent #2 -?/-? g.89690764A>G - PTEN_000007 rs370918174 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
13 Parent #2 ./. g.35252895T>G - chr13_000006 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 -?/-? g.89805046T>G - FANCI_000052 rs377255054 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.446-6T>G, NM_018193.2:c.446-6T>G r.(=) p.(=)
16 Parent #2 -/- g.2124416G>A - TSC2_000095 rs45517242 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2545+26G>A, NM_001077183.1:c.2545+26G>A, NM_001114382.1:c.2545+26G>A r.(=) p.(=)
16 Parent #2 ?/? g.50830196C>A - CYLD_000013 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2678-39C>A, NM_001042412.1:c.2678-39C>A, NM_015247.2:c.2687-39C>A r.(=) p.(=)
16 Parent #2 -?/-? g.68867187C>G - CDH1_000003 rs139757930 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2440-6C>G r.(=) p.(=)
17 Parent #2 -?/-? g.29657461G>A - NF1_000072 rs141077224 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.5694G>A, NM_001042492.2:c.5757G>A r.(=) p.(=)
22 Parent #2 -?/-? g.29121265C>T - CHEK2_000008 rs368570187 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.539G>A, NM_001257387.1:c.-368G>A, NM_007194.3:c.410G>A, NM_145862.2:c.410G>A r.(=), r.(?) p.(Arg180Gln), p.(=), p.(Arg137Gln)
Legend