c.4195-1G>A (p.?)
Variant ID Exon
74 Intron 32
RNA effect Control frequency Controls origin NetGene2 BDGP
splicing change 0/>115 ethnically matched
This substitution is located in the acceptor splice site of intron 32. The consequence of this change is not predictable, but a skip of exon 33 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
F358-2 (first cousin of F358-1) F358   France SLS yes no c.4195-1 G>A abn transc Direct sequencing (Sanger) c.5649 ins A L1884fsX1906 Direct sequencing (Sanger)