Individual #00016656

Reference -
Gender F
Geographic origin Aigio
Geographic origin Zante
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     
0000008836 61y - - - - Despoina Kalfakakou
0000008837 47y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000324 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     
5 Parent #2 -?/-? g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.705A>G, NM_001127510.2:c.705A>G, NM_001127511.2:c.676-8774A>G r.(=) p.(=)
5 Parent #2 -/- g.176722277C>T - NSD1_000001 rs143159630 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.7908C>T, NM_172349.2:c.7101C>T r.(=) p.(=)
8 Parent #2 ?/? g.145738644C>T - RECQL4_000070 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2421G>A - p.?
14 Parent #2 ?/? g.45646227C>A - FANCM_000025 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4222+48C>A r.(=) p.(=)
16 Parent #2 -/- g.23646295T>C - PALB2_000006 rs45472400 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1572A>G r.(=) p.(=)
16 Parent #2 ?/? g.23646626C>T - PALB2_000015 rs749461008 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1241G>A r.(?) p.(Arg414Gln)
16 Parent #2 -?/-? g.68835754G>A - CDH1_000006  rs1801023 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
18 Parent #2 -/- g.48604848C>T - SMAD4_000004 rs11663402 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.*11C>T r.(=) p.(=)
Legend