Individual #00016632

Reference -
Gender M
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     
0000008806 74y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006968 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.29519784A>G - ALK_000038 rs754810505 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1787T>C r.(?) p.(Met596Thr)
3 Parent #2 -/- g.10105516A>C - FANCD2_000154 rs36070315 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1868A>C, NM_033084.3:c.1868A>C r.(?) p.(Gln623Pro)
6 Parent #2 ./. g.29670300G>A - chr6_000025 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ?/? g.35426041G>A - FANCE_000024 - - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.970-33G>A r.(=) p.(=)
9 Parent #2 -/- g.135804266G>A - TSC1_000005 rs62621221 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.-7C>T, NM_001162426.1:c.-7C>T, NM_001162427.1:c.-7C>T r.(=) p.(=)
11 Parent #2 ?/? g.44135775C>T - EXT2_000056 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.766C>T, NM_001178083.1:c.667C>T, NM_207122.1:c.667C>T r.(?) p.(Arg256Trp), p.(Arg223Trp)
14 Parent #2 -?/-? g.65560390T>C - MAX_000010 rs115053488 - Germline - - - - Despoina Kalfakakou MAX - NM_001271068.1:c.144+36A>G, NM_001271069.1:c.144+36A>G, NM_002382.4:c.171+36A>G, NM_145112.2:c.144+36A>G, NM_145113.2:c.171+36A>G, NM_145114.2:c.171+36A>G, NM_197957.3:c.171+36A>G r.(=) p.(=)
16 Parent #2 -/- g.3632347T>C - SLX4_000011 rs111738042 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.5501A>G r.(?) p.(Asn1834Ser)
17 Parent #2 ?/? g.29486139G>A - NF1_000190 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.288+28G>A, NM_001042492.2:c.288+28G>A, NM_001128147.2:c.288+28G>A r.(=) p.(=)
17 Parent #2 -/- g.41243014C>T - BRCA1_000137 rs28897690 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4132G>A, NM_007297.3:c.3991G>A, NM_007298.3:c.823G>A, NM_007299.3:c.823G>A, NM_007300.3:c.4132G>A r.(?) p.(Val1378Ile), p.(Val1331Ile), p.(Val275Ile)
Legend