Individual #00017481

Reference -
Gender F
Geographic origin Eastern Rumelia
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     
0000009954 50y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001142 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     
2 Parent #2 -/- g.48027755T>C - MSH6_000008 rs2020912 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
3 Parent #2 -?/-? g.14209774C>T - XPC_000046 rs749416355 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.408G>A, NM_004628.4:c.519G>A r.(=) p.(=)
4 Parent #2 ?/? g.41749328A>G - PHOX2B_000011 - - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.429+38T>C r.(=) p.(=)
7 Parent #2 ?/? g.116436198C>G - MET_000007 rs757592643 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.*20C>G, NM_001127500.1:c.*20C>G r.(=) p.(=)
9 Parent #2 ?/? g.97912337C>T - FANCC_000012 rs370346767 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.554G>A, NM_001243743.1:c.554G>A, NM_001243744.1:c.554G>A r.(?) p.(Arg185Gln)
11 Parent #2 -/- g.44129781G>C - EXT2_000026 rs148121594 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.618G>C, NM_001178083.1:c.519G>C, NM_207122.1:c.519G>C r.(=) p.(=)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
13 Parent #2 -?/-? g.32911436A>C - BRCA2_000165 rs28897717 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2944A>C r.(?) p.(Ile982Leu)
15 Parent #2 -/- g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1722A>G r.(=) p.(=)
16 Parent #2 -/- g.3658876G>A - SLX4_000010  rs118089506 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 -?/-? g.68867187C>G - CDH1_000003 rs139757930 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2440-6C>G r.(=) p.(=)
Legend