Individual #00017862

Reference -
Gender F
Geographic origin Rizomata, Imathia
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     
0000010645 52y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001981 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
1 Parent #2 ?/? g.193205535_193205538del - CDC73_000040 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.1417+49_1417+52del r.(=) p.(=)
2 Parent #2 ?/? g.29416298C>T - ALK_000107 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.4655G>A r.(?) p.(Gly1552Glu)
4 Parent #2 ?/? g.55593538A>G - KIT_000030 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1648-44A>G, NM_001093772.1:c.1636-44A>G r.(=) p.(=)
5 Parent #2 ?/? g.176637696T>G - NSD1_000096 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.2296T>G, NM_172349.2:c.1489T>G r.(?) p.(Ser766Ala), p.(Ser497Ala)
9 Parent #2 -/- g.98211319A>G - PTCH1_000007 rs199982439 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3804+32T>C, NM_001083602.1:c.3606+32T>C, NM_001083603.1:c.3801+32T>C, NM_001083604.1:c.3351+32T>C, NM_001083605.1:c.3351+32T>C, NM_001083606.1:c.3351+32T>C, NM_001083607.1:c.3351+32T>C r.(=) p.(=)
10 Parent #2 -?/-? g.104359297G>T - SUFU_000001 rs34135067 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1018G>T, NM_016169.3:c.1018G>T r.(?) p.(Ala340Ser)
13 Parent #2 -?/-? g.32900775C>T - BRCA2_000040 rs367871824 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.631+25C>T r.(=) p.(=)
15 Parent #2 -?/-? g.91347463T>A - BLM_000004 rs1801256 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3625T>A r.(?) p.(Ser1209Thr)
16 Parent #2 ./. g.89986130T>C - chr16_000005 rs1110400 - - - - - - Despoina Kalfakakou - - - -
Legend