Individual #00019260

Reference -
Gender F
Geographic origin Keratsini
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases Healthy/Control
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000188 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.17354374_17354379del - SDHB_000002  rs34261028 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-19_424-14del r.(=) p.(=)
3 Parent #2 -/- g.14212047G>A - XPC_000008 rs41545713 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
5 Parent #2 ?/? g.176715770del - NSD1_000006 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.6152-50del, NM_172349.2:c.5345-50del r.(=) p.(=)
6 Parent #2 ./. g.32433218A>C - chr6_000020 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ?/? g.98011497G>A - FANCC_000007 rs1800361 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
11 Parent #2 -/- g.44228488C>T - EXT2_000004 rs75987184 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1740C>T, NM_001178083.1:c.1671C>T, NM_207122.1:c.1641C>T r.(=) p.(=)
Legend