Individual #00020410

Reference -
Gender M
Geographic origin Elliniko, Corinthia
Geographic origin Vasini, Tripoli
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     
0000012924 50y - - - II Ductal - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001621 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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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     
1 Parent #2 ./. g.17354373_17354374insGAA - SDHB_000012 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-14_424-13insTTC r.(=) p.(=)
2 Parent #2 ./. g.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47643476C>T - MSH2_000010 rs4987189 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.984C>T, NM_001258281.1:c.786C>T r.(=) p.(=)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
3 Parent #2 ./. g.37067306G>A - MLH1_000010 rs41294980 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1217G>A, NM_001167617.1:c.923G>A, NM_001167618.1:c.494G>A, NM_001167619.1:c.494G>A, NM_001258271.1:c.1217G>A, NM_001258273.1:c.494G>A, NM_001258274.1:c.494G>A r.(?) p.(Ser406Asn), p.(Ser308Asn), p.(Ser165Asn)
5 Parent #2 ./. g.1286477G>T - chr5_000003 rs34363858 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.6026959G>C - PMS2_000006 rs63750685 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
7 Parent #2 ./. g.55220281G>A - EGFR_000071 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.671G>A, NM_201282.1:c.671G>A, NM_201283.1:c.671G>A, NM_201284.1:c.671G>A r.(?) p.(Arg224His)
10 Parent #2 ./. g.43619303G>A - RET_000081 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.2939+47G>A, NM_020975.4:c.2939+47G>A r.(=) p.(=)
11 Parent #2 ./. g.108203653T>G - ATM_000190 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7927+26T>G r.(=) p.(=)
16 Parent #2 ./. g.2137985G>A - TSC2_000032 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
16 Parent #2 ./. g.89815056G>A - FANCA_000181 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+11C>T r.(=) p.(=)
16 Parent #2 ./. g.89849520G>C - FANCA_000180 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1471-10C>G r.(=) p.(=)
20 Both (homozygous) ./. g.62309839A>G - chr20_000006 rs6010620 - - - - - - Despoina Kalfakakou - - - -
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