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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009733 56y - - Ductal Invasive III N/A Negative Negative Negative - - - Despoina Kalfakakou

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.127G>T r.(?) p.(Val43Leu)
12 Parent #2 ./. g.58143104T>A - CDK4_000007 - - - - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.684-4A>T r.spl? p.?
13 Parent #2 ./. g.32893344A>G - BRCA2_000074 rs28897700 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.198A>G r.(=) p.(=)
13 Parent #2 ./. g.32930688G>T - BRCA2_000142 rs80358982 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7559G>T r.(?) p.(Arg2520Leu)
14 Parent #2 ./. g.95569761C>T - DICER1_000015 rs45562437 - - - - - - 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 - - - - - - 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 - - - - - - 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