Individual #00017300

Reference -
Gender F
Geographic origin Kalavryta
Geographic origin Patra
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases BrCa, TRC
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     
0000009733 56y - - - - Despoina Kalfakakou

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009734 43y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000971 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)
7 Parent #2 -?/-? g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.127G>T r.(?) p.(Val43Leu)
12 Parent #2 -?/-? g.58143104T>A - CDK4_000007 rs370609910 - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.684-4A>T r.spl? p.?
13 Parent #2 -/- g.32893344A>G - BRCA2_000074 rs28897700 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.198A>G r.(=) p.(=)
13 Parent #2 ?/? g.32930688G>T - BRCA2_000142 rs80358982 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7559G>T r.(?) p.(Arg2520Leu)
14 Parent #2 -?/-? g.95569761C>T - DICER1_000015 rs45562437 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.3972G>A, NM_001271282.1:c.3972G>A, NM_030621.3:c.3972G>A, NM_177438.2:c.3972G>A r.(=) p.(=)
16 Parent #2 -/- g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5260-15C>T, NM_001077183.1:c.5059-15C>T, NM_001114382.1:c.5191-15C>T r.(=) p.(=)
17 Parent #2 -?/-? g.41228641G>A - BRCA1_000034 rs80358111 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4358-10C>T, NM_007297.3:c.4217-10C>T, NM_007298.3:c.1049-13C>T, NM_007299.3:c.1049-13C>T, NM_007300.3:c.4424-13C>T r.(=) p.(=)
Legend