Individual #00020411

Reference -
Gender M
Geographic origin Thiva
Geographic origin -
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     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012925 58y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001622 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
3 Parent #2 ?/? g.10106409G>A - FANCD2_000015 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2022-4G>A, NM_033084.3:c.2022-4G>A r.spl? p.?
7 Parent #2 -?/-? g.116419023G>T - MET_000017 rs200624981 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.3522+12G>T, NM_001127500.1:c.3576+12G>T r.(=) p.(=)
11 Parent #2 -/- g.44228488C>T - EXT2_000004 rs75987184 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1740C>T, NM_001178083.1:c.1671C>T, NM_207122.1:c.1641C>T r.(=) p.(=)
11 Parent #2 ./. g.89011066C>G - chr11_000011 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 -?/-? g.95560444G>A - DICER1_000062 rs139500905 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.5145C>T, NM_001271282.1:c.5145C>T, NM_030621.3:c.5145C>T, NM_177438.2:c.5145C>T r.(=) p.(=)
16 Parent #2 ?/? g.2112651_2112654del - TSC2_000094 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1361+50_1361+53del, NM_001077183.1:c.1361+50_1361+53del, NM_001114382.1:c.1361+50_1361+53del r.(=) p.(=)
16 Parent #2 -/- g.2134221C>T - TSC2_000100 rs45517325 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4006-8C>T, NM_001077183.1:c.3805-8C>T, NM_001114382.1:c.3937-8C>T r.(=) p.(=)
17 Parent #2 -?/-? g.41251811C>T - BRCA1_000119 rs34545365 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.528G>A, NM_007297.3:c.387G>A, NM_007298.3:c.528G>A, NM_007299.3:c.528G>A, NM_007300.3:c.528G>A r.(=) p.(=)
19 Parent #2 ./. g.47207685G>C - chr19_000002 - - - - - - - Despoina Kalfakakou - - - -
22 Parent #2 -/- g.24129326C>T - SMARCB1_000003 rs34276473 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.-31C>T, NM_003073.3:c.-31C>T r.(=) p.(=)
22 Parent #2 -/- g.24143206A>G - SMARCB1_000004 rs35105793 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.411A>G, NM_003073.3:c.438A>G r.(=) p.(=)
Legend