Individual #00017858

Reference -
Gender F
Geographic origin Athens
Geographic origin United Kingdom
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     
0000010639 49y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001975 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.45797255G>A - MUTYH_000008 rs3219490 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
2 Parent #2 ?/? g.58390096_58390097insA - FANCL_000029 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.837-15_837-14insT, NM_018062.3:c.822-15_822-14insT r.(=) p.(=)
4 Parent #2 ?/? g.55573494C>A - KIT_000002 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1115+41C>A, NM_001093772.1:c.1115+41C>A r.(=) p.(=)
7 Parent #2 -?/-? g.116339237C>T - MET_000071 rs1363905218 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.99C>T, NM_001127500.1:c.99C>T r.(=) p.(=)
8 Parent #2 ?/? g.30922512A>G - WRN_000115 rs1441501404 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.437A>G r.(?) p.(Lys146Arg)
8 Parent #2 ?/? g.118832021G>C - EXT1_000005 rs145720047 - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1430C>G r.(?) p.(Pro477Arg)
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)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
12 Parent #2 ?/? g.58144942A>G - CDK4_000005 - - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.354+48T>C r.(=) p.(=)
14 Parent #2 -/- g.95569719C>T - DICER1_000002 rs143454689 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.4014G>A, NM_001271282.1:c.4014G>A, NM_030621.3:c.4014G>A, NM_177438.2:c.4014G>A r.(=) p.(=)
17 Parent #2 ?/? g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
Legend