Genomic variant #0000016612

Chromosome 12
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.88508265G>A
DNA change (hg38) -
Published as 1984C>T: p.Gln662X; p.Q662X
ISCN -
DB-ID CEP290_000040 See all 2 reported entries
Variant remarks 1 European MKS4 patient (com-het) and 1 French MKS4 patient (05/158; het) reported as MKS in Travaglini et al. 2009 and "Meckel-like" in Baala et. al 2007
Reference PubMed: Baala et al. 2007, PubMed: Tallila et al. 2008, PubMed: Travaglini et al. 2009
dbSNP ID -
Germline/Somatic/De novo SUMMARY record
Segregation yes
Frequency -
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 +/+ 20 c.1984C>T - r.(1984c>u) p.(Gln662*)