Individual #00020870

Reference -
Gender F
Geographic origin Volos
Geographic origin Livadia
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases RB1, RMSRCM
Owner name Despoina Kalfakakou


Phenotypes

Retinoblastoma (RB1)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012699 0y - - - Despoina Kalfakakou

Rhabdomyosarcoma (RMSRCM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012700 33y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001547 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou



Variants

4 entries on 1 page. Showing entries 1 - 4.
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     
2 Parent #2 ?/? g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1609G>A, NM_001128143.1:c.1492G>A, NM_001128144.1:c.1609G>A r.(?) p.(Glu537Lys), p.(Glu498Lys)
8 Parent #2 ?/? g.145738566C>T - RECQL4_000037 rs36115640 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+35G>A - p.?
13 Parent #2 +/+ g.48941648C>T - RB1_000066 rs121913300 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.958C>T r.(?) p.(Arg320*)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend