Individual #00017853

Reference -
Gender F
Geographic origin -
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     
0000010632 44y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001295 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     
2 Parent #2 ./. g.15782476A>C - chr2_000028 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 -?/-? g.47630309C>T - MSH2_000066 rs770870694 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.-22C>T, NM_001258281.1:c.-36C>T r.(=) p.(=)
2 Parent #2 ?/? g.48027541G>A - MSH6_000068 rs587779923 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2419G>A, NM_001281492.1:c.2029G>A, NM_001281493.1:c.1513G>A, NM_001281494.1:c.1513G>A r.(?) p.(Glu807Lys), p.(Glu677Lys), p.(Glu505Lys)
4 Parent #2 -?/-? g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.726A>G r.(=) p.(=)
7 Parent #2 -?/-? g.116411923C>T - MET_000014 rs34589476 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.2908C>T, NM_001127500.1:c.2962C>T r.(?) p.(Arg970Cys), p.(Arg988Cys)
11 Parent #2 ?/? g.108201108T>G - ATM_000003 rs56399857 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
13 Parent #2 ?/? g.32918841A>G - BRCA2_000188 - - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.6937+51A>G r.(=) p.(=)
15 Parent #2 -/- g.91352413T>G - BLM_000029 rs138831180 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3798T>G r.(=) p.(=)
17 Parent #2 -?/-? g.29562787C>T - NF1_000233 rs138186428 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3867C>T, NM_001042492.2:c.3867C>T r.(=) p.(=)
22 Parent #2 -?/-? g.30069341C>T - NF2_000002 rs137953976 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1206C>T, NM_016418.5:c.1206C>T, NM_181825.2:c.1206C>T, NM_181828.2:c.1080C>T, NM_181829.2:c.1083C>T, NM_181830.2:c.957C>T, NM_181831.2:c.957C>T, NM_181832.2:c.1206C>T, NM_181833.2:c.448-21400C>T r.(=) p.(=)
Legend