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     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012828 54y - - 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 rs201118107 - Germline - - - - 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 rs142188675 - Germline - - - - 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 rs768752146 - Germline - - - - 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 - - Germline - - - - 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 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
16 Parent #2 -/- g.68845646G>A - CDH1_000011 rs142822590 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.892G>A r.(?) p.(Ala298Thr)
17 Parent #2 -?/-? g.29676253C>T - NF1_000257 rs369754180 - Germline - - - - 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 - Germline - - - - 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 rs193023469 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
17 Parent #2 ?/? g.74475209C>T - RHBDF2_000051 rs773372003 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.423G>A, NM_024599.5:c.510G>A r.(=) p.(=)
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