c.1066-1G>A (p.?)
Variant ID Exon
90 Intron 12
Domains RNA effect Control frequency Controls origin NetGene2 BDGP
SMC,  CC I splicing change 0/94 Central Europe, Middle East, East Asia and US
This substitution is located in the acceptor splice site of intron 12. The consequence of this change is not predictable, but a skip of exon 13 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
F101 II-2 F101 male United States Of America CORS yes no Exon 13 1066-1G>A splice site DHPLC Exon 39 5163delT T1721fsX1723 DHPLC
testpat testfam   Afghanistan H unknown unknown Exon 1 - 5'UTR c.180+1G>T test2 Exon 1 c.103-13_103-18del test1