Individual #00020409

Reference -
Gender M
Geographic origin Psari, Messenia
Geographic origin Tripoli
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases PNCA2
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     
0000012919 52y - - - II - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001620 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
1 Parent #2 ./. g.17355075A>T - SDHB_000007 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.423+20T>A r.(=) p.(=)
2 Parent #2 ./. g.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
3 Parent #2 ./. g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.377+35C>T, NM_033084.3:c.377+35C>T r.(=) p.(=)
3 Parent #2 ./. g.170130118_170130119insTTA - chr3_000006 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.6043613G>A - PMS2_000016 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.240C>T r.(=) p.(=)
9 Parent #2 ./. g.100437871T>C - XPA_000024 - - - - - - - Despoina Kalfakakou XPA - NM_000380.3:c.674-2A>G r.spl? p.?
12 Parent #2 ./. g.121437407A>G - HNF1A_000037 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1745A>G r.(?) p.(His582Arg)
16 Parent #2 ./. g.2103372C>T - TSC2_000039 rs45517098 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 ./. g.3647747C>T - SLX4_000108 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1366+51G>A r.(=) p.(=)
17 Parent #2 ./. g.29685474C>T - NF1_000034 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7908-24C>T, NM_001042492.2:c.7971-24C>T r.(=) p.(=)
X Both (homozygous) ./. g.67021528G>A - chrX_000007 - - - - - - - Despoina Kalfakakou - - - -
Legend