c.6271-8T>G (p.?)
Variant ID Exon
77 Intron 45
Domains RNA effect Control frequency Controls origin NetGene2 BDGP
CC VI,  SMC splicing change 0/>115 ethnically matched
Substitution in intron 45. 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
F419-1 F419   Argentina CORS unknown no Intron 45 c.6271-8 T>G pot abn transc Direct sequencing (Sanger) Intron 28 c.3310-1 G>C abn transc Direct sequencing (Sanger)