Individual #00020444

Reference -
Gender M
Geographic origin Lefkada
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases PrCa
Owner name Despoina Kalfakakou


Phenotypes

Prostate cancer (PrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013175 62y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001517 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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.48026300C>G - MSH6_000075 rs764110569 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.1178C>G, NM_001281492.1:c.788C>G, NM_001281493.1:c.272C>G, NM_001281494.1:c.272C>G r.(?) p.(Ala393Gly), p.(Ala263Gly), p.(Ala91Gly)
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
3 Parent #2 -/- g.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
3 Parent #2 -/- 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.(=)
7 Parent #2 ?/? g.116380867T>A - MET_000002 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-39T>A, NM_001127500.1:c.1528-39T>A r.(=) p.(=)
7 Parent #2 ?/? g.116380868A>T - MET_000003 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-38A>T, NM_001127500.1:c.1528-38A>T r.(=) p.(=)
11 Parent #2 -/- g.532611G>A - HRAS_000016 rs756277885 - Germline - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.*25C>T, NM_005343.2:c.*5+20C>T, NM_176795.3:c.*164C>T r.(=) p.(=)
11 Parent #2 ?/? g.108196244A>G - ATM_000180 rs1555119325 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6780A>G r.(?) p.(Ile2260Met)
16 Parent #2 ?/? g.50785643A>G - CYLD_000030 rs1287618328 - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.633A>G, NM_001042412.1:c.633A>G, NM_015247.2:c.633A>G r.(=) p.(=)
16 Parent #2 ?/? g.89831260G>A - FANCA_000042 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2778+38C>T r.(=) p.(=)
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