Individual #00017811

Reference -
Gender F
Geographic origin East Mani
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     
0000010557 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001852 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.45797255G>A - MUTYH_000008 rs3219490 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
3 Parent #2 ?/? g.37070355G>A - MLH1_000120 rs754554026 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1490G>A, NM_001167617.1:c.1196G>A, NM_001167618.1:c.767G>A, NM_001167619.1:c.767G>A, NM_001258271.1:c.1490G>A, NM_001258273.1:c.767G>A, NM_001258274.1:c.767G>A r.(?) p.(Arg497Gln), p.(Arg399Gln), p.(Arg256Gln)
4 Parent #2 ?/? g.55604551C>T - KIT_000012 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2803-44C>T, NM_001093772.1:c.2791-44C>T r.(=) p.(=)
4 Parent #2 ./. g.100239360C>A - chr4_000007 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ?/? g.35420304G>C - FANCE_000006 rs13215706 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
11 Parent #2 ?/? g.44146315A>G - EXT2_000012 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.843-24A>G, NM_001178083.1:c.744-24A>G, NM_207122.1:c.744-24A>G r.(=) p.(=)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 -/- g.2136851C>T - TSC2_000107 rs182327684 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4968C>T, NM_001077183.1:c.4767C>T, NM_001114382.1:c.4899C>T r.(=) p.(=)
16 Parent #2 ?/? g.3633544C>T - SLX4_000059 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4740-33G>A r.(=) p.(=)
22 Parent #2 ?/? g.29091142C>T - CHEK2_000016  rs1555913429 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1477G>A, NM_001257387.1:c.685G>A, NM_007194.3:c.1348G>A, NM_145862.2:c.1261G>A r.(?) p.(Glu493Lys), p.(Glu229Lys), p.(Glu450Lys), p.(Glu421Lys)
Legend