Individual #00015788

Reference -
Gender F
Geographic origin Kozani
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, CWS1
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     
0000007574 38y - - - - Despoina Kalfakakou

Cowden syndrome 1 (CWS1)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000007575 38y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000026 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.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.(=)
5 Parent #2 ./. g.1286469A>G - chr5_000002 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.118834688G>A - EXT1_000002 - - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1417+16C>T r.(=) p.(=)
9 Parent #2 -/- g.97912307T>A - FANCC_000001 rs1800365 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.584A>T, NM_001243743.1:c.584A>T, NM_001243744.1:c.584A>T r.(?) p.(Asp195Val)
10 Parent #2 +/+ g.89711893C>T - PTEN_000002  rs786204864 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.511C>T r.(?) p.(Gln171*)
10 Parent #2 -?/-? g.104357064C>T - SUFU_000003 rs202247757 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.910+14C>T, NM_016169.3:c.910+14C>T r.(=) p.(=)
16 Parent #2 ?/? g.68857277C>A - CDH1_000001 - - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1937-25C>A r.(=) p.(=)
16 Parent #2 -?/-? g.68862204C>T - CDH1_000002 rs61747636 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2292C>T r.(=) p.(=)
22 Parent #2 ?/? g.29120915T>A - CHEK2_000004 rs17881298 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.721+50A>T, NM_001257387.1:c.-186+50A>T, NM_007194.3:c.592+50A>T, NM_145862.2:c.592+50A>T r.(=) p.(=)
Legend