Individual #00016373

Reference -
Gender F
Geographic origin Athens
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     
0000008426 48y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000097 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
3 Parent #2 ?/? g.10091163A>T - FANCD2_000018 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1519A>T, NM_033084.3:c.1519A>T r.(?) p.(Met507Leu)
11 Parent #2 -?/-? g.108150365_108150367del - ATM_000032 rs545376366 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3402+30_3402+32del r.(=) p.(=)
13 Parent #2 -/- g.32893207T>A - BRCA2_000028 rs81002830 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.68-7T>A r.(=) p.(=)
13 Parent #2 -?/-? g.32900250A>G - BRCA2_000029 rs200942633 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.438A>G r.(=) p.(=)
15 Parent #2 -/- g.40512901A>C - BUB1B_000006 rs34700927 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.3094A>C r.(?) p.(Asn1032His)
15 Parent #2 ?/? g.89817386A>T - FANCI_000026 rs145864790 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.976-13A>T, NM_018193.2:c.976-13A>T r.(=) p.(=)
15 Parent #2 ?/? g.89828482A>C - FANCI_000020 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1821+33A>C, NM_018193.2:c.1821+33A>C r.(=) p.(=)
15 Parent #2 -/- g.89835937A>G - FANCI_000005 rs139814895 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2011A>G, NM_018193.2:c.2011A>G r.(?) p.(Ile671Val)
15 Parent #2 -/- g.89838293A>C - FANCI_000011 rs118031800 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2604A>C, NM_018193.2:c.2456+1065A>C r.(?), r.(=) p.(Glu868Asp), p.(=)
15 Parent #2 ?/? g.89848645_89848646insT - FANCI_000015 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3255+5_3255+6insT, NM_018193.2:c.3075+5_3075+6insT r.(=) p.(=)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 -?/-? g.29664860G>A - NF1_000046 rs780247942 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6603G>A, NM_001042492.2:c.6666G>A r.(=) p.(=)
22 Parent #2 -?/-? g.24145622C>T - SMARCB1_000001 rs184021903 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.601+13C>T, NM_003073.3:c.628+13C>T r.(=) p.(=)
Legend