Individual #00016235

Reference -
Gender F
Geographic origin Erythres, Attica Region
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, CHL
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     
0000008218 40y - - - - Despoina Kalfakakou
0000008219 40y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000042 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     
3 Parent #2 ?/? g.52443672T>A - BAP1_000007 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.68-48A>T r.(=) p.(=)
7 Parent #2 -?/-? g.55214295G>A - EGFR_000012 rs181831531 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.425-4G>A, NM_201282.1:c.425-4G>A, NM_201283.1:c.425-4G>A, NM_201284.1:c.425-4G>A r.spl? p.?
10 Parent #2 -?/-? g.72358477C>T - PRF1_000002 rs145463632 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1000G>A, NM_005041.4:c.1000G>A r.(?) p.(Gly334Ser)
12 Parent #2 ./. g.112241811G>T - chr12_000003 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 -/- g.32911411G>A - BRCA2_000021 rs45525041 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2919G>A r.(=) p.(=)
16 Parent #2 -/- g.2103389C>T - TSC2_000040 rs45482691 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.272C>T, NM_001077183.1:c.272C>T, NM_001114382.1:c.272C>T r.(?) p.(Pro91Leu)
X Parent #2 -/- g.14877419A>G - FANCB_000005 rs200161949 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.989T>C, NM_152633.2:c.989T>C r.(?) p.(Ile330Thr)
Legend