Individual #00017871

Reference -
Gender F
Geographic origin Larisa
Geographic origin Trikala
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, CRC
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     
0000010666 50y - - - - Despoina Kalfakakou

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000010667 54y - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001991 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     
3 Parent #2 ?/? g.10094195T>A - FANCD2_000011 rs200473919 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A r.(=) p.(=)
3 Parent #2 ?/? g.14188806C>T - XPC_000068 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2477G>A, NM_004628.4:c.2588G>A r.(?) p.(Arg826His), p.(Arg863His)
4 Parent #2 ?/? g.55593622T>A - KIT_000016 rs780708976 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1688T>A, NM_001093772.1:c.1676T>A r.(?) p.(Ile563Lys), p.(Ile559Lys)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ?/? g.112176819C>T - APC_000002 rs368080169 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.5528C>T, NM_001127510.2:c.5528C>T, NM_001127511.2:c.5474C>T r.(?) p.(Pro1843Leu), p.(Pro1825Leu)
13 Parent #2 -/- g.32972280G>A - BRCA2_000016 rs11571830 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9649-19G>A r.(=) p.(=)
16 Parent #2 ./. g.85944417G>A - chr16_000012 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -?/-? g.89815038G>A - FANCA_000026 rs1800348 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
17 Parent #2 -/- g.59926634A>T - BRIP1_000018 rs200050729 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.380-17T>A r.(=) p.(=)
19 Parent #2 ?/? g.45856315G>A - ERCC2_000058 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1831+26C>T r.(=) p.(=)
Legend