Individual #00019755

Reference -
Gender F
Geographic origin Euboea
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases Polyposis
Owner name Despoina Kalfakakou


Phenotypes

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000011982 20y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000419 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou
0000006887 DNA MLPA 1 BMPR1A 1 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
3 Parent #2 ?/? g.10107554C>T - FANCD2_000028 rs758628578 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2276C>T, NM_033084.3:c.2276C>T r.(?) p.(Pro759Leu)
3 Parent #2 -?/-? g.37067094_37067100del - MLH1_000013 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-28del, NM_001167617.1:c.745-34_745-28del, NM_001167618.1:c.316-34_316-28del, NM_001167619.1:c.316-34_316-28del, NM_001258271.1:c.1039-34_1039-28del, NM_001258273.1:c.316-34_316-28del, NM_001258274.1:c.316-34_316-28del r.(=) p.(=)
4 Parent #2 -/- g.41748007T>C - PHOX2B_000007 rs17884724 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.762A>G r.(=) p.(=)
8 Parent #2 -/- g.145739917T>C - RECQL4_000015 rs373357384 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1621-8A>G - p.?
10 Parent #2 +/+ g.(?_88516426)_(88516683_88598727) - BMPR1A_000049 - Deletion extending exon 1 of a transcript, which is transcribed, but not translated. According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - BMPR1A exon 1 deletion - - Despoina Kalfakakou BMPR1A 1 NM_004329.2:c.(?) r.(?) p.(?)
11 Parent #2 ?/? g.22647116C>A - FANCF_000002 rs145057187 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
13 Parent #2 ?/? g.32972513C>T - BRCA2_000017 rs754588394 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9863C>T r.(?) p.(Thr3288Ile)
15 Parent #2 ?/? g.91293043C>T - BLM_000034 rs749838731 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.545C>T r.(?) p.(Thr182Ile)
16 Parent #2 ?/? g.89836223C>T - FANCA_000054 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2504+22G>A r.(=) p.(=)
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