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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000007574 38y - - Ductal Invasive III N/A Positive Positive Negative - - - Despoina Kalfakakou

Cowden syndrome 1 (CWS1)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

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 - - - - - - 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 - - - - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1417+16C>T r.(=) p.(=)
9 Parent #2 ./. g.97912307T>A - FANCC_000001 rs1800365 - - - - - - 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 - - - - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.511C>T r.(?) p.(Gln171*)
10 Parent #2 ./. g.104357064C>T - SUFU_000003 - - - - - - - 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 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1937-25C>A r.(=) p.(=)
16 Parent #2 ./. g.68862204C>T - CDH1_000002 rs61747636 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2292C>T r.(=) p.(=)
22 Parent #2 ./. g.29120915T>A - CHEK2_000004 rs17881298 - - - - - - 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