Individual #00021979

Reference -
Gender M
Geographic origin Asia Minor
Geographic origin Megara
Population -
Consanguinity -
Remarks -
Panel size 1
Diseases PANCA
Owner name Despoina Kalfakakou


Phenotypes

Pancreatic cancer (PANCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000014050 42y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006992 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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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     
2 Parent #2 ?/? g.29448474T>C - ALK_000012 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3068-43A>G r.(=) p.(=)
2 Parent #2 ?/? g.48032117A>C - MSH6_000107 - - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3507A>C, NM_001281492.1:c.3117A>C, NM_001281493.1:c.2601A>C, NM_001281494.1:c.2601A>C r.(=) p.(=)
3 Parent #2 -?/-? g.37035011A>G - MLH1_000022  rs56198082 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.-28A>G, NM_001167617.1:c.-544A>G, NM_001167618.1:c.-973A>G, NM_001167619.1:c.-886A>G, NM_001258271.1:c.-28A>G, NM_001258273.1:c.-660A>G, NM_001258274.1:c.-1123A>G r.(=) p.(=)
3 Parent #2 -/- g.37035032C>T - MLH1_000066 rs104894994 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.-7C>T, NM_001167617.1:c.-523C>T, NM_001167618.1:c.-952C>T, NM_001167619.1:c.-865C>T, NM_001258271.1:c.-7C>T, NM_001258273.1:c.-639C>T, NM_001258274.1:c.-1102C>T r.(=) p.(=)
5 Parent #2 -?/-? g.176671297C>T - NSD1_000018 rs139601377 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.4378+26C>T, NM_172349.2:c.3571+26C>T r.(=) p.(=)
7 Parent #2 -/- g.55233080C>T - EGFR_000028 rs115350205 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1830C>T, NM_201282.1:c.1830C>T, NM_201284.1:c.1830C>T r.(=) p.(=)
8 Parent #2 ?/? g.30954413T>C - WRN_000043 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1981+47T>C r.(=) p.(=)
8 Parent #2 ?/? g.30969161A>G - WRN_000135 rs761240520 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2119A>G r.(?) p.(Ser707Gly)
11 Parent #2 -?/-? g.108163382C>T - ATM_000005 rs4988008 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4473C>T r.(=) p.(=)
15 Parent #2 ?/? g.40509747T>C - BUB1B_000073 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2729T>C r.(?) p.(Val910Ala)
16 Parent #2 -?/-? g.2121604G>A - TSC2_000320 rs746677177 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1933G>A, NM_001077183.1:c.1933G>A, NM_001114382.1:c.1933G>A r.(?) p.(Val645Ile)
17 Parent #2 ?/? g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
17 Parent #2 ?/? g.29554351C>G - NF1_000306 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2325+42C>G, NM_001042492.2:c.2325+42C>G, NM_001128147.2:c.*5343C>G r.(=) p.(=)
17 Parent #2 ?/? g.29554355A>G - NF1_000307 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2325+46A>G, NM_001042492.2:c.2325+46A>G, NM_001128147.2:c.*5347A>G r.(=) p.(=)
19 Parent #2 -?/-? g.45868396C>T - ERCC2_000001 rs775235491 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.381G>A, NM_001130867.1:c.309G>A r.(=) p.(=)
22 Parent #2 +?/+? g.29121087A>G - CHEK2_000007 rs17879961 Low risk allele Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.599T>C, NM_001257387.1:c.-308T>C, NM_007194.3:c.470T>C, NM_145862.2:c.470T>C r.(=), r.(?) p.(Ile200Thr), p.(=), p.(Ile157Thr)
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