The amount of variants in ClinVar that happen to be contained inside this gene, having a link to look at the listing of variants.

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So this day may be various from your day of your “newest submission” claimed at the best of this web site. Help Abide by NCBI

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The worldwide minor allele frequency calculated via the a thousand Genomes Undertaking. The insignificant allele at this area is indicated in parentheses and should be different from your allele represented by this VCV report.

The aggregate germline classification for this variant, commonly for a monogenic or Mendelian dysfunction as in the ACMG/AMP tips, or for reaction to your drug. This benefit is calculated by NCBI depending on details from submitters. Study our regulations for calculating the combination classification.

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The number of variants in ClinVar which might be contained within just this gene, with a link to see the list of variants.

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

There isn't any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please consider submitting that details to ClinVar.

This sequence alter impacts codon 777 in the GAA mRNA. It's a 'silent' modify, that means that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens link thr777 to be part of the consensus splice site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed during the literature in people today afflicted with GAA-relevant problems.

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