Individual #00017971

Reference -
Gender F
Geographic origin Agrinio
Geographic origin Karpenisi
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     
0000010839 38y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002195 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.48030603C>T - MSH6_000089 rs142254875 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3217C>T, NM_001281492.1:c.2827C>T, NM_001281493.1:c.2311C>T, NM_001281494.1:c.2311C>T r.(?) p.(Pro1073Ser), p.(Pro943Ser), p.(Pro771Ser)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -?/-? g.43598049C>T - RET_000023 rs55810667 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.597C>T, NM_020975.4:c.597C>T r.(=) p.(=)
11 Parent #2 ?/? g.95532375A>G - CEP57_000005 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.19-21A>G, NM_001243777.1:c.46-21A>G, NM_014679.4:c.46-21A>G r.(=) p.(=)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
16 Parent #2 ?/? g.89816278G>T - FANCA_000109 rs139289675 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3099C>A r.(?) p.(Asp1033Glu)
17 Parent #2 -?/-? g.17125886G>A - FLCN_000034 rs750394475 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.708C>T, NM_144997.5:c.708C>T r.(=) p.(=)
Legend