Individual #00020418

Reference -
Gender M
Geographic origin Lakkopetra, Achaea
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     
0000012934 55y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001631 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.45805880G>A - MUTYH_000004 rs2275602 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.36+11C>T, NM_001048172.1:c.-239C>T, NM_001048173.1:c.-239C>T, NM_001048174.1:c.-316C>T, NM_001128425.1:c.36+11C>T, NM_012222.2:c.36+11C>T r.(=) p.(=)
1 Parent #2 ?/? g.193107262G>A - CDC73_000033 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.471G>A r.(=) p.(=)
2 Parent #2 ?/? g.190717541A>C - PMS1_000048 rs367952807 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.822+38A>C, NM_001128143.1:c.705+38A>C, NM_001128144.1:c.822+38A>C r.(=) p.(=)
6 Parent #2 ./. g.29918140G>A - chr6_000018 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ?/? g.116436095C>T - MET_000006 rs765332671 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.4090C>T, NM_001127500.1:c.4144C>T r.(?) p.(Pro1364Ser), p.(Pro1382Ser)
8 Parent #2 ?/? g.145736803A>G - RECQL4_000077 rs200068546 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.*11T>C - p.?
8 Parent #2 ?/? g.145738644C>T - RECQL4_000070 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2421G>A - p.?
11 Parent #2 -/- g.64572560C>T - MEN1_000003 rs138770431 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1311G>A, NM_130799.2:c.1296G>A, NM_130800.2:c.1311G>A, NM_130801.2:c.1311G>A, NM_130802.2:c.1311G>A, NM_130803.2:c.1311G>A, NM_130804.2:c.1311G>A r.(=) p.(=)
17 Parent #2 +?/+? g.59770790C>T - BRIP1_000062 rs1567737536 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2575+1G>A r.spl? p.?
17 Parent #2 -/- g.74469185C>T - RHBDF2_000007 rs138683747 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1812G>A, NM_024599.5:c.1899G>A r.(=) p.(=)
22 Parent #2 +?/+? g.29121058C>T - CHEK2_000024 rs72552322 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.628G>A, NM_001257387.1:c.-279G>A, NM_007194.3:c.499G>A, NM_145862.2:c.499G>A r.(=), r.(?) p.(Gly210Arg), p.(=), p.(Gly167Arg)
Legend