Individual #00019891

Reference -
Gender F
Geographic origin Rethimno, Crete
Geographic origin Arcadia
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases Polyposis
Owner name Despoina Kalfakakou


Phenotypes

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012097 19y - - Serrated,Hyperplastic Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000539 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.48027755T>C - MSH6_000008 rs2020912 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
3 Parent #2 ?/? g.10081063C>T - FANCD2_000068 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.570+22C>T, NM_033084.3:c.570+22C>T r.(=) p.(=)
3 Parent #2 ?/? g.14193818C>A - XPC_000032 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2004+17G>T, NM_004628.4:c.2115+17G>T r.(=) p.(=)
4 Parent #2 ./. g.1734234A>G - chr4_000009 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.160833647A>G - chr6_000027 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145737768G>C - RECQL4_000093 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3056+7C>G - p.?
12 Parent #2 ?/? g.121437215C>T - HNF1A_000008 rs201167179 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1623+23C>T r.(=) p.(=)
14 Parent #2 -?/-? g.95599776T>C - DICER1_000009  rs117358479 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.20A>G, NM_001271282.1:c.20A>G, NM_030621.3:c.20A>G, NM_177438.2:c.20A>G r.(?) p.(Gln7Arg)
15 Parent #2 -?/-? g.91354640T>G - BLM_000007 rs183176301 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4076+4T>G r.spl? p.?
16 Parent #2 -?/-? g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5383C>T, NM_001077183.1:c.5182C>T, NM_001114382.1:c.5314C>T r.(?) p.(Arg1795Cys), p.(Arg1728Cys), p.(Arg1772Cys)
16 Parent #2 -/- g.14015932C>T - ERCC4_000001 rs3136056 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.252C>T r.(=) p.(=)
16 Parent #2 ?/? g.50828088C>T - CYLD_000003 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-35C>T, NM_001042412.1:c.2461-35C>T, NM_015247.2:c.2470-35C>T r.(=) p.(=)
16 Parent #2 -/- g.68855966G>A - CDH1_000014 rs35187787 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1774G>A r.(?) p.(Ala592Thr)
19 Parent #2 -?/-? g.1220733C>G - STK11_000018 rs751929304 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.734+17C>G r.(=) p.(=)
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