c.3310-1G>C (p.?)
Variant ID Exon
76 Intron 28
Domains RNA effect Control frequency Controls origin NetGene2 BDGP
CC VI,  SMC splicing change 0/>115 ethnically matched
This substitution is located in the acceptor splice site of intron 28. The consequence of this change is not predictable, but a skip of exon 29 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
F419-1 F419   Argentina CORS unknown no Intron 28 c.3310-1 G>C abn transc Direct sequencing (Sanger) Intron 45 c.6271-8 T>G pot abn transc Direct sequencing (Sanger)