Genomic variant #0000033177

Individual ID 00021721
Chromosome 11
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.95552024_95552026del
Reference -
DB-ID CEP57_000038
dbSNP ID rs746863051
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEP57 NM_001243776.1 ?/? - c.628_630del r.(?) p.(Glu212del)
CEP57 NM_001243777.1 ?/? - c.655_657del r.(?) p.(Glu221del)
CEP57 NM_014679.4 ?/? - c.655_657del r.(?) p.(Glu221del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001940 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou