Individual #00019850

Reference -
Gender F
Geographic origin Kalymnos
Geographic origin Folegandros
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     
0000012065 34y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000511 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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.47698123G>A - MSH2_000034 rs63750328 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1681G>A, NM_001258281.1:c.1483G>A r.(?) p.(Glu561Lys), p.(Glu495Lys)
3 Parent #2 -/- g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
5 Parent #2 ?/? g.112178822C>T - APC_000037 rs72541815 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.7531C>T, NM_001127510.2:c.7531C>T, NM_001127511.2:c.7477C>T r.(?) p.(Leu2511Phe), p.(Leu2493Phe)
8 Parent #2 -?/-? g.90990521T>C   Yamamoto et al (2014)   NBN_000003 rs61754966 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.511A>G r.(?) p.(Ile171Val)
10 Parent #2 ./. g.51549473C>T - chr10_000001 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.44255636A>G - EXT2_000020 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1906-29A>G, NM_001178083.1:c.1837-29A>G, NM_207122.1:c.1807-29A>G r.(=) p.(=)
11 Parent #2 -/- g.108183194A>C - ATM_000009 rs150757822 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5975A>C r.(?) p.(Lys1992Thr)
14 Parent #2 ?/? g.45658037T>C - FANCM_000036 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4812T>C r.(=) p.(=)
16 Parent #2 -?/-? g.23634273A>G - PALB2_000009 rs180177128 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2996+17T>C r.(=) p.(=)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.17119658G>A - FLCN_000019 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*5035C>T, NM_144997.5:c.1300+36C>T r.(=) p.(=)
Legend