c.3104-2A>G (p.?)
Variant ID Exon
94 Intron 27
Domains RNA effect Control frequency Controls origin NetGene2 BDGP
SMC splicing change 0/94 Central Europe, Middle East, East Asia and US
This substitution is located in the acceptor splice site of intron 27. The consequence of this change is not predictable, but a skip of exon 28 is very likely.
Patient information Allele 1 Allele 2  
Patient ID Family ID Gender Age Origin Disease Segregation Parental consanguinity Consanguinity degree Exon/intron Nucleotide nomencl. Protein nomencl. Detection method Exon/intron Nucleotide nomencl. Protein nomencl. Detection method Reference
F938 II-1 F938   Bosnia CORS yes no Exon 29 3104-2A>G Splice site DHPLC