Genomic variant #0000020563

Individual ID 00021307
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.95562394G>A
Reference -
DB-ID CEP57_000021 See all 3 reported entries
dbSNP ID rs776303543
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 0.00052
Allele Count 3
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.1144G>A r.(?) p.(Val382Ile)
CEP57 NM_001243777.1 ?/? - c.1093G>A r.(?) p.(Val365Ile)
CEP57 NM_014679.4 ?/? - c.1171G>A r.(?) p.(Val391Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000741 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou