Individual #00016136

Reference -
Gender F
Geographic origin Kasos
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
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     
0000008069 61y - - - - Despoina Kalfakakou
0000008070 48y - - - - Despoina Kalfakakou
0000008071 61y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000035 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     
2 Parent #2 ./. g.8178761T>A - chr2_000004 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ./. g.238387273C>T - chr2_000005 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145739939C>T - RECQL4_000016 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1621-30G>A - p.?
10 Parent #2 ./. g.51549533T>G - chr10_000002 rs41274660 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.22646421T>A - FANCF_000005 rs371631248 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.936A>T r.(?) p.(Gln312His)
11 Parent #2 -?/-? g.108203640T>A - ATM_000014 rs748853277 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7927+13T>A r.(=) p.(=)
15 Parent #2 ?/? g.40491888A>G - BUB1B_000004 rs373256667 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.1361A>G r.(?) p.(Lys454Arg)
17 Parent #2 -/- g.29554205A>T - NF1_000016 rs141082540 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2252-31A>T, NM_001042492.2:c.2252-31A>T, NM_001128147.2:c.*5197A>T r.(=) p.(=)
22 Parent #2 -?/-? g.29121077T>C - CHEK2_000006 rs575910805 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.609A>G, NM_001257387.1:c.-298A>G, NM_007194.3:c.480A>G, NM_145862.2:c.480A>G r.(=), r.(?) p.(Ile203Met), p.(=), p.(Ile160Met)
Legend