Individual #00020429

Reference -
Gender F
Geographic origin Corfu
Geographic origin Asia Minor
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     
0000012954 63y - - - III Ductal - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001640 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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     
5 Parent #2 ./. g.112178348A>G - APC_000100 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.7057A>G, NM_001127510.2:c.7057A>G, NM_001127511.2:c.7003A>G r.(?) p.(Thr2353Ala), p.(Thr2335Ala)
7 Parent #2 ./. g.6026520C>T - PMS2_000089 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1876G>A r.(?) p.(Ala626Thr)
7 Parent #2 ./. g.116380867T>A - MET_000002 - - - - - - - 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 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-38A>T, NM_001127500.1:c.1528-38A>T r.(=) p.(=)
8 Parent #2 ./. g.145738638C>T - RECQL4_000038 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2427G>A - p.?
9 Parent #2 ./. g.16915071T>G - chr9_000028 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.35079502G>A - FANCG_000006 rs35984312 - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.20C>T r.(?) p.(Ser7Phe)
11 Parent #2 ./. g.67250676G>A - AIP_000009 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
11 Parent #2 ./. g.108186822C>A - ATM_000192 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6180C>A r.(=) p.(=)
11 Parent #2 ./. g.108196837G>A - ATM_000191 rs1800061 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6860G>A r.(?) p.(Gly2287Glu)
12 Parent #2 ./. g.112521402G>A - chr12_000004 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ./. g.32912750G>T - BRCA2_000026 rs28897727 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4258G>T r.(?) p.(Asp1420Tyr)
16 Parent #2 ./. g.50830266C>T - CYLD_000009 - - - - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2709C>T, NM_001042412.1:c.2709C>T, NM_015247.2:c.2718C>T r.(=) p.(=)
16 Parent #2 ./. g.89815038G>A - FANCA_000026 rs1800348 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
20 Parent #2 ./. g.62309839A>G - chr20_000006 rs6010620 - - - - - - Despoina Kalfakakou - - - -
Legend