Individual #00020417

Reference -
Gender M
Geographic origin Kollines, Arcadia
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     
0000012933 65y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001630 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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     
8 Parent #2 ?/? g.118832021G>C - EXT1_000005 rs145720047 - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1430C>G r.(?) p.(Pro477Arg)
8 Parent #2 ?/? g.145739430C>A - RECQL4_000094 rs372664774 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1940G>T - p.?
8 Parent #2 ?/? g.145739710G>A - RECQL4_000176 rs776147492 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1741C>T - p.?
10 Parent #2 -/- g.89692731G>T - PTEN_000016 rs35034871 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.254-39G>T r.(=) p.(=)
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
11 Parent #2 -/- g.108175387G>C - ATM_000035 rs3092828 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5497-15G>C r.(=) p.(=)
14 Parent #2 -/- g.45606290C>T - FANCM_000011 rs77374493 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
16 Parent #2 -?/-? g.2112941C>G - TSC2_000011 rs45517166 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1362-32C>G, NM_001077183.1:c.1362-32C>G, NM_001114382.1:c.1362-32C>G r.(=) p.(=)
17 Parent #2 -?/-? g.59760948A>G - BRIP1_000010 rs4987050 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.3459T>C r.(=) p.(=)
18 Parent #2 -?/-? g.48581323C>T - SMAD4_000033 rs905151346 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.627C>T r.(=) p.(=)
Legend