Individual #00016471

Reference -
Gender F
Geographic origin Athens
Geographic origin Peloponnese
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008567 47y - - Ductal Invasive III N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000193 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.128016978G>A - ERCC3_000015 rs4150521 - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2111C>T r.(?) p.(Ser704Leu)
3 Parent #2 ./. g.37055947G>A - MLH1_000033 rs35908749 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.702G>A, NM_001167617.1:c.408G>A, NM_001167618.1:c.-22G>A, NM_001167619.1:c.-22G>A, NM_001258271.1:c.702G>A, NM_001258273.1:c.-22G>A, NM_001258274.1:c.-22G>A r.(=) p.(=)
5 Parent #2 ./. g.112173250G>A - APC_000010 rs72541809 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.1959G>A, NM_001127510.2:c.1959G>A, NM_001127511.2:c.1905G>A r.(=) p.(=)
8 Parent #2 ./. g.90983442_90983446del - NBN_000002 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.657_661del r.(?) p.(Lys219Asnfs*16)
11 Parent #2 ./. g.95562311C>T - CEP57_000001 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.1101-40C>T, NM_001243777.1:c.1050-40C>T, NM_014679.4:c.1128-40C>T r.(=) p.(=)
12 Parent #2 ./. g.121437108C>T - HNF1A_000015 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1539C>T r.(=) p.(=)
13 Parent #2 ./. g.32936865C>A - BRCA2_000008 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7976+35C>A r.(=) p.(=)
14 Parent #2 ./. g.65568306A>G - MAX_000002 - - - - - - - Despoina Kalfakakou MAX - NM_001271068.1:c.36+716T>C, NM_001271069.1:c.36+716T>C, NM_002382.4:c.37-16T>C, NM_145112.2:c.36+716T>C, NM_145113.2:c.37-16T>C, NM_145114.2:c.37-16T>C, NM_197957.3:c.37-16T>C r.(=) p.(=)
16 Parent #2 ./. g.89805974G>A - FANCA_000034 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3935-13C>T r.(=) p.(=)
17 Parent #2 ./. g.41226488C>A - BRCA1_000009 rs1800744 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4535G>T, NM_007297.3:c.4394G>T, NM_007298.3:c.1223G>T, NM_007299.3:c.1223G>T, NM_007300.3:c.4598G>T r.(?) p.(Ser1512Ile), p.(Ser1465Ile), p.(Ser408Ile), p.(Ser1533Ile)
17 Parent #2 ./. g.74470523G>A - RHBDF2_000005 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1396C>T, NM_024599.5:c.1483C>T r.(?) p.(Arg466Trp), p.(Arg495Trp)
Legend