c.2218-4_2222del (p.?)
Variant ID Exon OMIM ID
7 Intron 21
Domains RNA effect Control frequency Controls origin NetGene2 BDGP
KID II,  CC III splicing change 0/>95 not mentioned
This deletion alters the acceptor splice site of exon 22. The consequence of this change is not predictable, but a skip of exon 22 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
F4 II-1 F4   Turkey SLS yes yes Exon 23 2218-2222delccagATAGA obligatory splice site Direct sequencing (Sanger) Exon 23 2218-2222delccagATAGA obligatory splice site Direct sequencing (Sanger)
F4 II-2 F4   Turkey SLS yes yes Exon 23 2218-2222delccagATAGA obligatory splice site Direct sequencing (Sanger) Exon 23 2218-2222delccagATAGA obligatory splice site Direct sequencing (Sanger)