Individual #00017492

Reference -
Gender M
Geographic origin Reihea, Laconia
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     
0000009970 57y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001151 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.45798269T>C - MUTYH_000016 rs200872702 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.625A>G, NM_001048172.1:c.586A>G, NM_001048173.1:c.583A>G, NM_001048174.1:c.583A>G, NM_001128425.1:c.667A>G, NM_012222.2:c.658A>G r.(?) p.(Ile209Val), p.(Ile196Val), p.(Ile195Val), p.(Ile223Val), p.(Ile220Val)
1 Parent #2 ./. g.121280606C>T - chr1_000002 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 -/- g.233194694A>C - DIS3L2_000067 rs563679311 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-13361A>C, NM_152383.4:c.1911A>C r.(=) p.(=)
11 Parent #2 -?/-? g.108151707_108151708insTA - ATM_000093 rs1555091084 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-15_3403-14insTA r.(=) p.(=)
11 Parent #1 -/- g.108151709dup - ATM_000092 rs3218681 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-13dup r.(=) p.(=)
13 Parent #2 +/+ g.32907502_32907503insA - BRCA2_000173 rs80359314 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1887_1888insA r.(?) p.(Thr630Asnfs*6)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
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.89871703T>G - FANCA_000049 rs61757384 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.694A>C, NM_001018112.1:c.694A>C r.(=) p.(=)
Legend