Individual #00017283

Reference -
Gender F
Geographic origin Volos
Geographic origin Markopoulo, Attica Region
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     
0000009703 35y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000955 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.14199940C>A - XPC_000002 rs182616621 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1332G>T, NM_004628.4:c.1443G>T r.(?) p.(Lys444Asn), p.(Lys481Asn)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ?/? g.112175634C>T - APC_000032 rs907886109 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.4343C>T, NM_001127510.2:c.4343C>T, NM_001127511.2:c.4289C>T r.(?) p.(Thr1448Ile), p.(Thr1430Ile)
7 Parent #2 ./. g.50466291T>G - chr7_000007 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -/- g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.306G>C, NM_001243777.1:c.333G>C, NM_014679.4:c.333G>C r.(?) p.(Gln102His), p.(Gln111His)
13 Parent #2 -/- g.32906593C>A - BRCA2_000041 rs28897706 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.978C>A r.(?) p.(Ser326Arg)
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.(=)
18 Parent #2 -?/-? g.48591923T>C - SMAD4_000020  rs1801250 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.1086T>C r.(=) p.(=)
Legend