Individual #00019931

Reference -
Gender M
Geographic origin Athens
Geographic origin -
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     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012146 64y - - - Tubulopapillary Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000583 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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     
1 Parent #2 ./. g.17355218A>G - SDHB_000003 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
3 Parent #2 ./. g.37089130A>G - MLH1_000012 rs35001569 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1852A>G, NM_001167617.1:c.1558A>G, NM_001167618.1:c.1129A>G, NM_001167619.1:c.1129A>G, NM_001258271.1:c.1852A>G, NM_001258273.1:c.1129A>G, NM_001258274.1:c.1129A>G r.(?) p.(Lys618Glu), p.(Lys520Glu), p.(Lys377Glu)
3 Parent #2 ./. g.37089131A>C - MLH1_000015 rs63750449 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1853A>C, NM_001167617.1:c.1559A>C, NM_001167618.1:c.1130A>C, NM_001167619.1:c.1130A>C, NM_001258271.1:c.1853A>C, NM_001258273.1:c.1130A>C, NM_001258274.1:c.1130A>C r.(?) p.(Lys618Thr), p.(Lys520Thr), p.(Lys377Thr)
7 Parent #2 ./. g.55269520A>G - EGFR_000009 rs41446045 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
16 Parent #2 ./. g.2134915C>T - TSC2_000101 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4494-37C>T, NM_001077183.1:c.4293-37C>T, NM_001114382.1:c.4425-37C>T r.(=) p.(=)
16 Parent #2 ./. g.89845318A>G - FANCA_000076 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1776+33T>C r.(=) p.(=)
20 Both (homozygous) ./. g.62309839A>G - chr20_000006 rs6010620 - - - - - - Despoina Kalfakakou - - - -
Legend