Individual #00017779

Reference -
Gender F
Geographic origin Kilkis
Geographic origin Serres
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     
0000010466 37y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001736 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     
8 Parent #2 ./. g.128424757G>T - chr8_000009 rs76573300 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -?/-? g.145739582G>A - RECQL4_000185 rs368736533 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1869C>T - p.?
11 Parent #2 -?/-? g.95532388T>A - CEP57_000013 rs755051766 - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.19-8T>A, NM_001243777.1:c.46-8T>A, NM_014679.4:c.46-8T>A r.(=) p.(=)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
15 Parent #2 -?/-? g.91333923G>A - BLM_000087 rs199861261 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2868G>A r.(=) p.(=)
22 Parent #2 ?/? g.24145459T>G - SMARCB1_000006 - - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.474-23T>G, NM_003073.3:c.501-23T>G r.(=) p.(=)
Legend