Individual #00017554

Reference -
Gender F
Geographic origin Kalymnos
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     
0000010056 56y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001217 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     
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
10 Parent #2 -/- g.88683209T>G - BMPR1A_000005 rs145756629 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1419T>G r.(=) p.(=)
11 Parent #2 ?/? g.47259364A>G - DDB2_000019 - - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.1024-24A>G r.(=) p.(=)
11 Parent #2 -?/-? g.64575096C>T - MEN1_000025 rs144677807 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.726G>A, NM_130799.2:c.711G>A, NM_130800.2:c.726G>A, NM_130801.2:c.726G>A, NM_130802.2:c.726G>A, NM_130803.2:c.726G>A, NM_130804.2:c.726G>A r.(=) p.(=)
13 Parent #2 ?/? g.103515288G>C - ERCC5_000001 rs4150319 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1789G>C r.(?) p.(Val597Leu)
14 Parent #2 ?/? g.45650888C>T - FANCM_000006 rs200360968 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4366C>T r.(?) p.(Arg1456Cys)
16 Parent #2 ?/? g.68845655G>A - CDH1_000052 rs749056300 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.901G>A r.(?) p.(Ala301Thr)
16 Parent #2 ?/? g.89836642C>T - FANCA_000143 rs747723074 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2248G>A r.(?) p.(Val750Met)
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