Not known Factual Statements About thr777
Not known Factual Statements About thr777
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The effect of the variant on RNA or protein functionality, based on experimental proof from submitters.
This sequence adjust affects codon 777 with the GAA mRNA. It's a 'silent' change, which means that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Component of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in people today impacted with GAA-relevant problems.
There is no functional proof in ClinVar for this variation. If you have created useful facts for this variation, you should look at distributing that info to ClinVar.
The global minor allele frequency calculated through the one thousand Genomes Venture. The minor allele at this location is indicated in parentheses and could be diverse through the allele represented by this VCV document.
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The aggregate germline classification for this variant, normally for your monogenic or Mendelian problem as in the ACMG/AMP recommendations, or for reaction to a drug. This value is calculated by NCBI determined by facts from submitters. Browse our rules for calculating the combination classification.
There are no citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, you should look at distributing that data to ClinVar.
The quantity of variants in ClinVar that happen to be contained within just this gene, using a website link to watch the list of variants.
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Aberrant 5' splice websites in human disease genes: mutation sample, nucleotide structure and comparison of computational tools that forecast their utilization.
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