Individual #00020565

Reference -
Gender M
Geographic origin Fotada, Trikala
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases HMGM, NDL, RCC
Owner name Despoina Kalfakakou


Phenotypes

Renal cell carcinoma (RCC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013080 70y - - - Despoina Kalfakakou

Nodules (NDL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013081 70y - - - Despoina Kalfakakou

Hemangioma¬† (HMGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013082 70y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001453 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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.45797255G>A - MUTYH_000008 rs3219490 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
16 Parent #2 -/- g.3640715G>A - SLX4_000018 rs114472821 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
16 Parent #2 -/- g.3645724C>T - SLX4_000019 rs149916101 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1925-30G>A r.(=) p.(=)
16 Parent #2 -/- g.3646275C>T - SLX4_000001 rs144892556 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1803G>A r.(=) p.(=)
16 Parent #2 -/- g.3646323G>A - SLX4_000002 rs114016359 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1755C>T r.(=) p.(=)
22 Parent #2 ?/? g.29121018C>T - CHEK2_000005 rs137853009 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.668G>A, NM_001257387.1:c.-239G>A, NM_007194.3:c.539G>A, NM_145862.2:c.539G>A r.(=), r.(?) p.(Arg223His), p.(=), p.(Arg180His)
Legend