Individual #00019510

Reference -
Gender F
Geographic origin -
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     
0000008716 59y - - - - Despoina Kalfakakou
0000008717 65y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001365 DNA SEQ-NG-I 1 - 19 Despoina Kalfakakou



Variants

19 entries on 1 page. Showing entries 1 - 19.
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.45805880G>A - MUTYH_000004 rs2275602 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.36+11C>T, NM_001048172.1:c.-239C>T, NM_001048173.1:c.-239C>T, NM_001048174.1:c.-316C>T, NM_001128425.1:c.36+11C>T, NM_012222.2:c.36+11C>T r.(=) p.(=)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ?/? g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-43T>C r.(=) p.(=)
8 Parent #2 ?/? g.31004843C>T - WRN_000014 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3460-37C>T r.(=) p.(=)
8 Parent #2 ?/? g.90993017T>C - NBN_000043 rs769414 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.425A>G r.(?) p.(Asn142Ser)
11 Parent #2 ?/? g.2906264C>G - CDKN1C_000015 - - Germline - - - - Despoina Kalfakakou CDKN1C - NM_000076.2:c.456G>C, NM_001122630.1:c.423G>C, NM_001122631.1:c.423G>C r.(=) p.(=)
16 Parent #2 -?/-? g.68862204C>T - CDH1_000002 rs61747636 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2292C>T r.(=) p.(=)
17 Parent #2 ?/? g.29554505_29554506insTA - NF1_000181 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2326-36_2326-35insTA, NM_001042492.2:c.2326-36_2326-35insTA, NM_001128147.2:c.*5497_*5498insTA r.(=) p.(=)
17 Parent #2 ?/? g.29556201C>T - NF1_000074 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>T, NM_001042492.2:c.2568C>T r.(=) p.(=)
17 Parent #2 ?/? g.29556982A>T - NF1_000107 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2980A>T, NM_001042492.2:c.2980A>T r.(?) p.(Asn994Tyr)
17 Parent #2 ?/? g.29557376C>T - NF1_000134 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3089C>T, NM_001042492.2:c.3089C>T r.(?) p.(Ser1030Leu)
17 Parent #2 ?/? g.29559685C>T - NF1_000135 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3315-33C>T, NM_001042492.2:c.3315-33C>T r.(=) p.(=)
17 Parent #2 ?/? g.29559686A>G - NF1_000136 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3315-32A>G, NM_001042492.2:c.3315-32A>G r.(=) p.(=)
17 Parent #2 ?/? g.29587402A>G - NF1_000035 rs876658776 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4383A>G, NM_001042492.2:c.4446A>G r.(?) p.(Ile1461Met), p.(Ile1482Met)
17 Parent #2 ?/? g.29587553G>A - NF1_000079 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4514+20G>A, NM_001042492.2:c.4577+20G>A r.(=) p.(=)
17 Parent #2 ?/? g.29587566C>T - NF1_000080 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4514+33C>T, NM_001042492.2:c.4577+33C>T r.(=) p.(=)
17 Parent #2 ?/? g.59763271T>G - BRIP1_000055 rs148232408 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2831A>C r.(?) p.(Gln944Pro)
17 Parent #2 ?/? g.59853812C>G - BRIP1_000054 - - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2047G>C r.(?) p.(Val683Leu)
19 Parent #2 ?/? g.45855980del - ERCC2_000004 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1902+24del r.(=) p.(=)
Legend