Genomic variant #0000016610

Chromosome 12
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.88513962delT
DNA change (hg38) -
Published as p.K484fsX8
ISCN -
DB-ID CEP290_000143
Variant remarks 1 British MKS4 family (het)
Reference PubMed: Otto 2011
dbSNP ID -
Germline/Somatic/De novo SUMMARY record
Segregation yes
Frequency 295/18699 CON
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
CEP290 NM_025114.3 +/+ 15 c.1451delA - r.(1451del) p.(Tyr484Leufs*27)