Individual #00020937

Reference -
Gender F
Geographic origin Pontus
Geographic origin Sürmene, Pontus
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases SIC
Owner name Despoina Kalfakakou


Phenotypes

Small Intestine Cancer (SIC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012828 54y - - - II Positive - - Neuroendocrine Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001585 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.47698190A>G - MSH2_000069 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1748A>G, NM_001258281.1:c.1550A>G r.(?) p.(Asn583Ser), p.(Asn517Ser)
6 Parent #2 ./. g.32578071G>A - chr6_000017 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.43602006C>T - RET_000075 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.1050C>T, NM_020975.4:c.1050C>T r.(=) p.(=)
10 Parent #2 ./. g.43623659A>G - RET_000077 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.*1457A>G, NM_020975.4:c.3287A>G r.(=), r.(?) p.(=), p.(Tyr1096Cys)
11 Parent #2 ./. g.32456784C>G - WT1_000005 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.108G>C, NM_001198551.1:c.-4699G>C, NM_001198552.1:c.-4699G>C, NM_024424.3:c.108G>C, NM_024426.4:c.108G>C r.(=) p.(=)
16 Parent #2 ./. g.68835754G>A - CDH1_000006 rs1801023 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
16 Parent #2 ./. g.68845646G>A - CDH1_000011 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.892G>A r.(?) p.(Ala298Thr)
17 Parent #2 ./. g.29676253C>T - NF1_000257 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7242C>T, NM_001042492.2:c.7305C>T r.(=) p.(=)
17 Parent #2 ./. g.56772522G>A - RAD51C_000007 rs61758784 - - - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.376G>A, NM_058216.2:c.376G>A r.(?) p.(Ala126Thr)
17 Parent #2 ./. g.56780540G>T - RAD51C_000004 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
17 Parent #2 ./. g.74475209C>T - RHBDF2_000051 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.423G>A, NM_024599.5:c.510G>A r.(=) p.(=)
Legend