c.1A>G (p.Met1?)
Variant ID Exon
91 Exon 2 - CDS
RNA effect Control frequency Controls origin
unknown 0/94 Central Europe, Middle East, East Asia and US
Substitution affecting the translation initiation codon (Met1). The consequence of this change is not predictable.
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
F57 II-1 F57 male Germany SLS unknown no Exon 2 - CDS A1G Start codon defect DHPLC Exon 15 1419-1423del AATAA K473fsX478 DHPLC