Individual #00020419

Reference -
Gender M
Geographic origin Pontus
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     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012939 77y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001648 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.45797255G>A - MUTYH_000008 rs3219490 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
2 Parent #2 ?/? g.48025990C>T - MSH6_000079 - - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.868C>T, NM_001281492.1:c.478C>T, NM_001281493.1:c.-39C>T, NM_001281494.1:c.-39C>T r.(=) p.(=)
2 Parent #2 ?/? g.128044408C>T - ERCC3_000055 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1213G>A r.(?) p.(Val405Ile)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
16 Parent #2 -/- g.89813078G>C - FANCA_000025 rs61753269 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3427C>G r.(?) p.(Leu1143Val)
17 Parent #2 -?/-? g.59870976A>G - BRIP1_000064 rs773489367 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.1455T>C r.(=) p.(=)
19 Parent #2 ?/? g.45864762A>T - ERCC2_000011 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1237+20T>A, NM_001130867.1:c.1165+20T>A r.(=) p.(=)
Legend