Individual #00016485

Reference -
Gender F
Geographic origin Heraklion, Crete
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     
0000008582 47y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000203 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     
2 Parent #2 ?/? g.29436965C>T - ALK_000030 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3646-18G>A r.(=) p.(=)
2 Parent #2 ?/? g.47596663C>T - EPCAM_000004 - - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.19C>T r.(?) p.(Leu7Phe)
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
3 Parent #2 ?/? g.52441526G>A - BAP1_000017 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.376-50C>T r.(=) p.(=)
7 Parent #2 ?/? g.55269021G>A - EGFR_000016 rs141489713 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3087G>A r.(=) p.(=)
9 Parent #2 ?/? g.98011497G>A - FANCC_000007 rs1800361 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
9 Parent #2 ./. g.110888520T>C - chr9_000012 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.108122565C>T - ATM_000057 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1609C>T r.(?) p.(Pro537Ser)
15 Parent #2 ?/? g.91303941A>G - BLM_000039 - - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1338A>G r.(=) p.(=)
16 Parent #2 -/- g.89813093G>C - FANCA_000036 rs138417003 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3412C>G r.(?) p.(Leu1138Val)
17 Parent #2 -?/-? g.33430316C>T - RAD51D_000007 rs28363283 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.755G>A, NM_002878.3:c.695G>A, NM_133629.2:c.359G>A r.(?) p.(Arg252Gln), p.(Arg232Gln), p.(Arg120Gln)
18 Parent #2 ?/? g.48604602T>C - SMAD4_000012 - - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.1448-24T>C r.(=) p.(=)
Legend