Individual #00020470

Reference -
Gender M
Geographic origin Ioannina
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases PNCA2, PrCa
Owner name Despoina Kalfakakou


Phenotypes

Pancreatic cancer 2 (PNCA2)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

Subtype     

Owner     
0000012722 72y - - - II - - - Despoina Kalfakakou

Prostate cancer (PrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Gleason     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012721 72y - - - 7 Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001555 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.48010455C>T - MSH6_000078 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.83C>T, NM_001281492.1:c.83C>T, NM_001281493.1:c.-654C>T, NM_001281494.1:c.-1432C>T r.(?), r.(=) p.(Ser28Leu), p.(=)
3 Parent #2 ./. g.10091153C>T - FANCD2_000017 rs6785756 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
7 Parent #2 ./. g.148512141G>A - EZH2_000052 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.1532-10C>T, NM_001203248.1:c.1505-10C>T, NM_001203249.1:c.1504+457C>T, NM_004456.4:c.1547-10C>T, NM_152998.2:c.1415-10C>T r.(=) p.(=)
8 Parent #2 ./. g.30916058A>G - WRN_000019 rs34477820 - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.95A>G r.(?) p.(Lys32Arg)
14 Parent #2 ./. g.45639980T>C - FANCM_000017 rs76620062 - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2160+31T>C r.(=) p.(=)
16 Parent #2 ./. g.68863617G>A - CDH1_000055 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2356G>A r.(?) p.(Asp786Asn)
22 Parent #2 ./. g.29091154T>C - CHEK2_000011 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1465A>G, NM_001257387.1:c.673A>G, NM_007194.3:c.1336A>G, NM_145862.2:c.1249A>G r.(?) p.(Asn489Asp), p.(Asn225Asp), p.(Asn446Asp), p.(Asn417Asp)
Legend