Individual #00017308

Reference -
Gender F
Geographic origin Amaliada, Elis
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, GIST
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     
0000009747 43y - - - - Despoina Kalfakakou

Gastrointestinal stromal tumor (GIST)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009748 44y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000976 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     
2 Parent #2 ?/? g.47606896del - EPCAM_000007 - - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.658-12del r.(=) p.(=)
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
7 Parent #2 ?/? g.148506292C>T - EZH2_000018 - - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.2096-45G>A, NM_001203248.1:c.2069-45G>A, NM_001203249.1:c.1943-45G>A, NM_004456.4:c.2111-45G>A, NM_152998.2:c.1979-45G>A r.(=) p.(=)
11 Parent #2 ?/? g.32439190A>G - WT1_000018 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.883T>C, NM_001198551.1:c.247T>C, NM_001198552.1:c.247T>C, NM_024424.3:c.883T>C, NM_024426.4:c.883T>C r.(?) p.(Tyr295His), p.(Tyr83His)
17 Parent #2 ?/? g.17116985G>A - FLCN_000031 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144997.5:c.1724C>T r.(?) p.(Ser575Leu)
17 Parent #2 -/- g.29554205A>T - NF1_000016 rs141082540 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2252-31A>T, NM_001042492.2:c.2252-31A>T, NM_001128147.2:c.*5197A>T r.(=) p.(=)
17 Parent #2 ?/? g.66519971C>A - PRKAR1A_000018 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.440+14C>A, NM_001276290.1:c.440+14C>A, NM_002734.4:c.440+14C>A, NM_212471.2:c.440+14C>A, NM_212472.2:c.440+14C>A r.(=) p.(=)
Legend