Genomic variant #0000040075

Individual ID 00020101
Chromosome 11
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.95546226G>C
Reference -
DB-ID CEP57_000002 See all 24 reported entries
dbSNP ID rs117321017
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 0.00417
Allele Count 24
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.306G>C r.(?) p.(Gln102His)
CEP57 NM_001243777.1 -/- - c.333G>C r.(?) p.(Gln111His)
CEP57 NM_014679.4 -/- - c.333G>C r.(?) p.(Gln111His)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006338 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou