Individual #00017322

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Agrinio
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, RCC
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     
0000009758 56y - - Ductal Invasive II N/A Positive Positive Positive - - - Despoina Kalfakakou

Renal cell carcinoma (RCC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000009759 63y - - - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000982 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     
4 Parent #2 ./. g.55604597T>A - KIT_000013 rs72549296 - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2805T>A, NM_001093772.1:c.2793T>A r.(=) p.(=)
5 Parent #2 ./. g.112175211T>A - APC_000005 rs1801155 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3920T>A, NM_001127510.2:c.3920T>A, NM_001127511.2:c.3866T>A r.(?) p.(Ile1307Lys), p.(Ile1289Lys)
7 Parent #2 ./. g.55233071C>T - EGFR_000050 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1821C>T, NM_201282.1:c.1821C>T, NM_201284.1:c.1821C>T r.(=) p.(=)
8 Parent #2 ./. g.119123164C>G - EXT1_000019 - - - - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.122G>C r.(?) p.(Ser41Thr)
8 Parent #2 ./. g.145738644C>T - RECQL4_000070 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2421G>A - p.?
10 Parent #2 ./. g.89711855_89711856insT - PTEN_000011 - - - - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.493-20_493-19insT r.(=) p.(=)
15 Parent #2 ./. g.46639817C>T - chr15_000022 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ./. g.2105504A>G - TSC2_000178 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.583A>G, NM_001077183.1:c.583A>G, NM_001114382.1:c.583A>G r.(?) p.(Ile195Val)
16 Parent #2 ./. g.2138546G>A - TSC2_000004 rs45517419 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5359G>A, NM_001077183.1:c.5158G>A, NM_001114382.1:c.5290G>A r.(?) p.(Gly1787Ser), p.(Gly1720Ser), p.(Gly1764Ser)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
18 Parent #2 ./. g.48604848C>T - SMAD4_000004 rs11663402 - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.*11C>T r.(=) p.(=)
Legend