c.3104-1G>A (p.?)
Variant ID Exon
88 Intron 27
RNA effect NetGene2 BDGP
splicing change
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
712 8   18 w (g) Palestinian Authority ML yes yes Exon 28 c.3104-1G>A Splice Direct sequencing (Sanger) Exon 27 c.3043G>T p.Glu1015X Direct sequencing (Sanger)