Individual #00020197

Reference -
Gender F
Geographic origin Planitero, Kalavryta
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases -
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001395 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
13 Parent #2 ?/? g.48916887A>G - RB1_000008 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ?/? g.48953701C>T - RB1_000010 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1333-29C>T r.(=) p.(=)
13 Parent #2 -/- g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
15 Parent #2 ?/? g.91354509G>A - BLM_000078 rs730880251 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3949G>A r.(?) p.(Glu1317Lys)
16 Parent #2 ?/? g.3632342A>G - SLX4_000085 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.*1T>C r.(=) p.(=)
16 Parent #2 -/- g.3658876G>A - SLX4_000010  rs118089506 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
17 Parent #2 ?/? g.29546177G>A - NF1_000244 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1641+41G>A, NM_001042492.2:c.1641+41G>A, NM_001128147.2:c.1641+41G>A r.(=) p.(=)
Legend