Individual #00020958

Reference -
Gender M
Geographic origin Koropi
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases GC, 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     
0000012913 72y - - - - - - - Despoina Kalfakakou

Gastric Cancer (GC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012912 57y - - - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001617 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.29448474T>C - ALK_000012 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3068-43A>G 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.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.37089130A>G - MLH1_000012 rs35001569 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1852A>G, NM_001167617.1:c.1558A>G, NM_001167618.1:c.1129A>G, NM_001167619.1:c.1129A>G, NM_001258271.1:c.1852A>G, NM_001258273.1:c.1129A>G, NM_001258274.1:c.1129A>G r.(?) p.(Lys618Glu), p.(Lys520Glu), p.(Lys377Glu)
3 Parent #2 ./. g.37089131A>C - MLH1_000015 rs63750449 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1853A>C, NM_001167617.1:c.1559A>C, NM_001167618.1:c.1130A>C, NM_001167619.1:c.1130A>C, NM_001258271.1:c.1853A>C, NM_001258273.1:c.1130A>C, NM_001258274.1:c.1130A>C r.(?) p.(Lys618Thr), p.(Lys520Thr), p.(Lys377Thr)
6 Parent #2 ./. g.35428388A>G - FANCE_000042 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1376A>G r.(?) p.(Glu459Gly)
10 Parent #2 ./. g.43613908A>T - RET_000003 rs77724903 - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.2372A>T, NM_020975.4:c.2372A>T r.(?) p.(Tyr791Phe)
10 Parent #2 ./. g.72358722T>C - PRF1_000014 rs28933375 - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
11 Parent #2 ./. g.32439143G>A - WT1_000022 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.930C>T, NM_001198551.1:c.294C>T, NM_001198552.1:c.294C>T, NM_024424.3:c.930C>T, NM_024426.4:c.930C>T r.(=) p.(=)
11 Parent #2 +/+ g.108122611del - ATM_000142 - - Unknown - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1655del r.(?) p.(Pro552Glnfs*4)
11 Parent #2 ./. g.108122700T>C - ATM_000023 rs2235006 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1744T>C r.(?) p.(Phe582Leu)
17 Parent #2 ./. g.29683945G>A - NF1_000200 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7676-33G>A, NM_001042492.2:c.7739-33G>A r.(=) p.(=)
Legend