Genomic variant #0000016606

Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.88530479_88530480delinsA
DNA change (hg38) g.88136702_88136703delinsA
Published as p.Lys127AsnfsX36
ISCN -
DB-ID CEP290_000017 See all 2 reported entries
Variant remarks 1 MKS4 family of undetermined ethnicity (com-het)
Reference PubMed: Baala 2007
ClinVar ID -
dbSNP ID -
Origin 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)     

ClassClinical     

RNA change     

Protein     
CEP290 NM_025114.3 +/+ 6 c.381_382delinsT - r.(381_382delinsu) p.(Lys127Asnfs*36)