Individual #00020414

Reference -
Gender F
Geographic origin Polidroso, Parnassus
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     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

Subtype     

Owner     
0000012929 56y - - - III Ductal - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001626 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.48025990C>T - MSH6_000079 - - - - - - - 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.233195514C>G - DIS3L2_000013 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12541C>G, NM_152383.4:c.2010+28C>G r.(=) p.(=)
3 Parent #2 ./. g.87173357C>G - chr3_000027 - - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 ./. g.55592007G>A - KIT_000057 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1347-16G>A, NM_001093772.1:c.1347-16G>A r.(=) p.(=)
8 Parent #2 ./. g.30954377A>G - WRN_000042 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1981+11A>G r.(=) p.(=)
8 Parent #2 ./. g.145737701C>T - RECQL4_000002 rs34666647 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ./. g.32931912A>C - BRCA2_000200 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7651A>C r.(?) p.(Lys2551Gln)
14 Parent #2 ./. g.45644816A>C - FANCM_000001 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2859A>C r.(?) p.(Lys953Asn)
Legend