Individual #00017550

Reference -
Gender F
Geographic origin Serres
Geographic origin Mytilene
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     
0000010053 35y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001196 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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.232952283G>C - DIS3L2_000068 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.453G>C, NM_001257282.1:c.453G>C, NM_152383.4:c.453G>C r.(=) p.(=)
10 Parent #2 ?/? g.43607597C>G - RET_000062 rs545625150 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1573C>G, NM_020975.4:c.1573C>G r.(?) p.(Arg525Gly)
10 Parent #2 -?/-? g.72358722T>C - PRF1_000014 rs28933375 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
12 Parent #2 ./. g.112521402G>A - chr12_000004 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ?/? g.95557514T>C - DICER1_000059 - - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.5365-68A>G, NM_001271282.1:c.5527+26A>G, NM_030621.3:c.5527+26A>G, NM_177438.2:c.5527+26A>G r.(=) p.(=)
16 Parent #2 -/- g.89805045A>C - FANCA_000019 rs149531696 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4332T>G r.(=) p.(=)
Legend