Genomic variant #0000014758

Individual ID 00019308
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.95523906C>T
Reference -
DB-ID CEP57_000011
dbSNP ID rs1377080839
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.-28C>T r.(=) p.(=)
CEP57 NM_001243777.1 ?/? - c.44C>T r.(?) p.(Ser15Leu)
CEP57 NM_014679.4 ?/? - c.44C>T r.(?) p.(Ser15Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000380 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou