Individual #00020446

Reference -
Gender M
Geographic origin Elassona
Geographic origin Agia, Larisa
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     
0000012649 59y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001519 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.47601029G>C - EPCAM_000005 rs146480420 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.267G>C r.(?) p.(Gln89His)
2 Parent #2 -/- g.48032033C>T - MSH6_000017 rs192614006 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3439-16C>T, NM_001281492.1:c.3049-16C>T, NM_001281493.1:c.2533-16C>T, NM_001281494.1:c.2533-16C>T r.(=) p.(=)
3 Parent #2 ?/? g.10106440G>A - FANCD2_000070 rs768608195 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2049G>A, NM_033084.3:c.2049G>A r.(=) p.(=)
7 Parent #2 ?/? g.55211136G>A - EGFR_000014 rs377444977 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.379G>A, NM_201282.1:c.379G>A, NM_201283.1:c.379G>A, NM_201284.1:c.379G>A r.(?) p.(Ala127Thr)
9 Parent #2 -/- g.98209458G>A - PTCH1_000050 rs62637631 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4080C>T, NM_001083602.1:c.3882C>T, NM_001083603.1:c.4077C>T, NM_001083604.1:c.3627C>T, NM_001083605.1:c.3627C>T, NM_001083606.1:c.3627C>T, NM_001083607.1:c.3627C>T r.(=) p.(=)
10 Parent #2 ./. g.107516330_107516331del - chr10_000014 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -?/-? g.2134290G>A - TSC2_000180 rs747104864 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4067G>A, NM_001077183.1:c.3866G>A, NM_001114382.1:c.3998G>A r.(?) p.(Gly1356Asp), p.(Gly1289Asp), p.(Gly1333Asp)
Legend