Genomic variant #0000016253

Individual ID 00019322
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.95561144G>T
Reference -
DB-ID CEP57_000009 See all 2 reported entries
dbSNP ID rs201285476
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 0.00035
Allele Count 2
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.1053G>T r.(?) p.(Leu351Phe)
CEP57 NM_001243777.1 ?/? - c.1002G>T r.(?) p.(Leu334Phe)
CEP57 NM_014679.4 ?/? - c.1080G>T r.(?) p.(Leu360Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000417 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou