Individual #00017543

Reference -
Gender F
Geographic origin Kiato
Geographic origin Chania
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     
0000010039 30y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001190 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.29543699G>A - ALK_000018 rs56165377 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1464C>T r.(=) p.(=)
3 Parent #2 -/- g.14212047G>A - XPC_000008 rs41545713 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
3 Parent #2 ?/? g.14219932G>C - XPC_000010 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.103+34C>G, NM_004628.4:c.103+34C>G r.(=) p.(=)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 -/- g.112173250G>A - APC_000010 rs72541809 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.1959G>A, NM_001127510.2:c.1959G>A, NM_001127511.2:c.1905G>A r.(=) p.(=)
5 Parent #2 -?/-? g.112179153C>G - APC_000015 rs72541816 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.7862C>G, NM_001127510.2:c.7862C>G, NM_001127511.2:c.7808C>G r.(?) p.(Ser2621Cys), p.(Ser2603Cys)
9 Parent #2 ?/? g.135777958C>T - TSC1_000002 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2391+34G>A, NM_001162426.1:c.2388+34G>A, NM_001162427.1:c.2238+34G>A r.(=) p.(=)
11 Parent #2 -?/-? g.534269C>T - HRAS_000014 rs148380285 - Germline - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.54G>A, NM_005343.2:c.54G>A, NM_176795.3:c.54G>A r.(=) p.(=)
11 Parent #2 -/- g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.306G>C, NM_001243777.1:c.333G>C, NM_014679.4:c.333G>C r.(?) p.(Gln102His), p.(Gln111His)
16 Parent #2 ?/? g.50828088C>T - CYLD_000003 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-35C>T, NM_001042412.1:c.2461-35C>T, NM_015247.2:c.2470-35C>T r.(=) p.(=)
16 Parent #2 -/- g.89811483T>C - FANCA_000134 rs149388130 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3514-4A>G r.spl? p.?
16 Parent #2 ?/? g.89836477G>C - FANCA_000137 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2317-45C>G r.(=) p.(=)
17 Parent #2 +/+ g.59878764_59878770del - BRIP1_000012 - - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.984_990del r.(?) p.(Phe328Leufs*8)
Legend