Individual #00016521

Reference -
Gender F
Geographic origin Preveza
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     
0000008637 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000232 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.17355075A>T - SDHB_000007 rs190139590 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.423+20T>A r.(=) p.(=)
3 Parent #2 -/- g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
5 Parent #2 ?/? g.112176819C>T - APC_000002 rs368080169 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.5528C>T, NM_001127510.2:c.5528C>T, NM_001127511.2:c.5474C>T r.(?) p.(Pro1843Leu), p.(Pro1825Leu)
6 Parent #2 ./. g.32433218A>C - chr6_000020 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.30969188C>T - WRN_000045 rs201990558 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2146C>T r.(?) p.(Arg716Cys)
11 Parent #2 ?/? g.108224595G>A - ATM_000078 rs769959260 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.8774G>A r.(?) p.(Gly2925Asp)
14 Parent #2 ?/? g.45642459T>C - FANCM_000018 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2316+46T>C r.(=) p.(=)
15 Parent #2 ?/? g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.11T>C r.(?) p.(Val4Ala)
16 Parent #2 ?/? g.2137985G>A - TSC2_000032 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
17 Parent #2 ?/? g.29685474C>T - NF1_000034 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7908-24C>T, NM_001042492.2:c.7971-24C>T r.(=) p.(=)
Legend