Individual #00017907

Reference -
Gender F
Geographic origin Heraklion
Geographic origin Kythnos
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     
0000010724 39y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002032 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     
3 Parent #2 ?/? g.37061780_37061781del - MLH1_000020 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.885-21_885-20del, NM_001167617.1:c.591-21_591-20del, NM_001167618.1:c.162-21_162-20del, NM_001167619.1:c.162-21_162-20del, NM_001258271.1:c.885-21_885-20del, NM_001258273.1:c.162-21_162-20del, NM_001258274.1:c.162-21_162-20del r.(=) p.(=)
3 Parent #2 ?/? g.37089060G>C - MLH1_000050 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1782G>C, NM_001167617.1:c.1488G>C, NM_001167618.1:c.1059G>C, NM_001167619.1:c.1059G>C, NM_001258271.1:c.1782G>C, NM_001258273.1:c.1059G>C, NM_001258274.1:c.1059G>C r.(?) p.(Glu594Asp), p.(Glu496Asp), p.(Glu353Asp)
6 Both (homozygous) -/- g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1572G>A r.(=) p.(=)
10 Parent #2 -?/-? g.104359297G>T - SUFU_000001 rs34135067 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1018G>T, NM_016169.3:c.1018G>T r.(?) p.(Ala340Ser)
12 Parent #2 -?/-? g.58145441C>T - CDK4_000020 rs1595111186 - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.60G>A r.(=) p.(=)
13 Parent #2 -/- g.32913691C>T - BRCA2_000002 rs28897734 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5199C>T r.(=) p.(=)
16 Parent #2 -/- g.14026008T>C - ERCC4_000003 rs201181735 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.974-6T>C r.(=) p.(=)
17 Parent #2 -/- g.29677184C>T - NF1_000028 rs17884859 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7259-17C>T, NM_001042492.2:c.7322-17C>T r.(=) p.(=)
17 Parent #2 -?/-? g.66518940G>A - PRKAR1A_000030 rs200069356 - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.221G>A, NM_001276290.1:c.221G>A, NM_002734.4:c.221G>A, NM_212471.2:c.221G>A, NM_212472.2:c.221G>A r.(?) p.(Arg74His)
19 Parent #2 ?/? g.45855649C>T - ERCC2_000017 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2047-39G>A r.(=) p.(=)
X Parent #2 ?/? g.14875963_14875965del - FANCB_000016 - - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.1197+19_1197+21del, NM_152633.2:c.1197+19_1197+21del r.(=) p.(=)
Legend