Individual #00017294

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Heraklion
Population Greek
Consanguinity no
Remarks -
Panel size 1
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     
0000009722 35y - - Ductal In Situ II N/A Positive Positive N/A - - - Despoina Kalfakakou
0000009723 36y - - Ductal In Situ N/A N/A N/A N/A N/A - - - Despoina Kalfakakou

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

Subtype     

Owner     
0000009724 28y - - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000963 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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     
2 Parent #2 ./. g.232894725G>T - DIS3L2_000051 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.301G>T, NM_001257282.1:c.301G>T, NM_152383.4:c.301G>T r.(?) p.(Ala101Ser)
2 Parent #2 ./. g.233198618G>T - DIS3L2_000061 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-9437G>T, NM_152383.4:c.2079G>T r.(=) p.(=)
5 Parent #2 ./. g.112103091A>G - APC_000073 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.422+4A>G, NM_001127510.2:c.422+4A>G, NM_001127511.2:c.452+4A>G r.spl? p.?
10 Parent #2 ./. g.72358722T>C - PRF1_000014 rs28933375 - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
13 Parent #2 ./. g.103514053T>A - ERCC5_000055 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.869T>A r.(?) p.(Ile290Asn)
22 Parent #2 ./. g.29121087A>G - CHEK2_000007 rs17879961 - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.599T>C, NM_001257387.1:c.-308T>C, NM_007194.3:c.470T>C, NM_145862.2:c.470T>C r.(=), r.(?) p.(Ile200Thr), p.(=), p.(Ile157Thr)
Legend