A Secret Weapon For thr777
A Secret Weapon For thr777
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The issue for that classification, furnished by the submitter for this submitted (SCV) record. This column also consists of the afflicted status and allele origin of individuals observed using this type of variant.
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This sequence alter influences codon 777 on the GAA mRNA. It is just a 'silent' modify, meaning that it doesn't change the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, which is Component of the consensus splice internet site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented in the literature in men and women affected with GAA-linked ailments.
Aberrant 5' splice web-sites in human illness genes: mutation pattern, nucleotide structure and comparison of computational resources that forecast their utilization.
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There isn't any functional proof in ClinVar for this variation. If you have produced functional knowledge for this variation, remember to look at distributing that info to ClinVar.
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The outcome on the variant on RNA or protein perform, determined by experimental proof from submitters.
The quantity of variants in ClinVar that are contained in this gene, which has a hyperlink to check out the listing of variants.
The global small allele frequency calculated through the one thousand Genomes Undertaking. The slight allele at this spot is indicated in parentheses and will be diverse through the allele represented by this VCV file.
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