Individual #00016231

Reference -
Gender M
Geographic origin Agios Nikolaos, Lasithi
Geographic origin -
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     
0000008213 78y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000041 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.58390031A>G - FANCL_000004 rs773117904 - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.888T>C, NM_018062.3:c.873T>C r.(=) p.(=)
3 Parent #2 -/- g.52438427C>T - BAP1_000015 rs150454901 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1250+42G>A 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.90965728G>C - NBN_000001 - - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.1589C>G r.(?) p.(Ser530Cys)
9 Parent #2 ?/? g.98209562A>G - PTCH1_000005 - - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3976T>C, NM_001083602.1:c.3778T>C, NM_001083603.1:c.3973T>C, NM_001083604.1:c.3523T>C, NM_001083605.1:c.3523T>C, NM_001083606.1:c.3523T>C, NM_001083607.1:c.3523T>C r.(?) p.(Ser1326Pro), p.(Ser1260Pro), p.(Ser1325Pro), p.(Ser1175Pro)
11 Parent #2 ?/? g.95555036T>G - CEP57_000004 rs750192070 - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.674T>G, NM_001243777.1:c.701T>G, NM_014679.4:c.701T>G r.(?) p.(Leu225Trp), p.(Leu234Trp)
16 Parent #2 ?/? g.2137985G>A - TSC2_000032 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
Legend