c.180+2T>A (p.?)
Variant ID Exon OMIM ID
82 Intron 3
Domains RNA effect NetGene2 BDGP
CC I splicing change
This substitution is located in the donor splice site of intron 3. The consequence of this change is not predictable, but a skip of exon 3 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
304 4   19 w (g) France, Tunisia MKS yes unknown Exon 3 c.180+2 T>A Splice Direct sequencing (Sanger) Exon 6 c.384_387delTAGA p.Asp128GlufsX34 Direct sequencing (Sanger)
303 4   16 w (g) MKS yes unknown Exon 3 c.180+2 T>A Splice Direct sequencing (Sanger) Exon 6 c.384_387delTAGA p.Asp128GlufsX34 Direct sequencing (Sanger)