5 Simple Techniques For thr777

5 Simple Techniques For thr777

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The outcome in the variant on RNA or protein functionality, based upon experimental evidence from submitters.

This sequence improve impacts codon 777 of the GAA mRNA. It is just a 'silent' alter, this means that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be Section of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in folks influenced with GAA-related situations.

There is no functional proof in ClinVar for this variation. If you have created purposeful facts for this variation, you should take into consideration publishing that knowledge to ClinVar.

The global small allele frequency calculated from the a thousand Genomes Job. The minimal allele at this spot is indicated in parentheses and will be different from the allele represented by this VCV report.

The issue for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of individuals observed using this type of variant.

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There won't be any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, be sure to take into consideration publishing that facts to ClinVar.

The quantity of variants in ClinVar which might be contained inside of this gene, having a website link to look at the listing of variants.

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Stars signify the combination critique standing, or the extent of overview supporting the aggregate germline classification for this VCV history.

The quantity of variants in ClinVar for this gene, such as lesser variants inside the gene and bigger CNVs that overlap or fully consist of the gene.

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