Individual #00017549

Reference -
Gender F
Geographic origin Ira, Argolis
Geographic origin Argos
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     
0000010051 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001195 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.10076517C>T - FANCD2_000022 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.377+35C>T, NM_033084.3:c.377+35C>T r.(=) p.(=)
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.(=)
15 Parent #2 ?/? g.40494941G>T - BUB1B_000005 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.1734+46G>T r.(=) p.(=)
16 Parent #2 ?/? g.2137985G>A - TSC2_000032 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
16 Parent #2 -/- g.3632347T>C - SLX4_000011 rs111738042 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.5501A>G r.(?) p.(Asn1834Ser)
16 Parent #2 ?/? g.89883004G>T - FANCA_000142 rs772712346 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.20C>A, NM_001018112.1:c.20C>A r.(?) p.(Pro7Gln)
17 Parent #2 -?/-? g.29683945G>A - NF1_000200 rs199706010 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7676-33G>A, NM_001042492.2:c.7739-33G>A r.(=) p.(=)
20 Parent #2 ./. g.60921022C>A - chr20_000003 - - - - - - - Despoina Kalfakakou - - - -
Legend