Genomic variant #0000016604

Chromosome 12
Allele Paternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.88534731A>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID CEP290_000131 See all 3 reported entries
Variant remarks 1 Tunisian and 1 French MKS4 family (both com-het)
Reference PubMed: Baala 2007
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 +?/+? 3i c.180+2T>A - r.spl? p.?