Examine This Report on thr777
Examine This Report on thr777
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The effect of your variant on RNA or protein purpose, based on experimental proof from submitters.
This sequence adjust impacts codon 777 of the GAA mRNA. It is a 'silent' transform, meaning that it does not change the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be Section of the consensus splice site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been noted within the literature in people today affected with GAA-relevant conditions.
There is no functional proof in ClinVar for this variation. If you have created purposeful information for this variation, you should take into account submitting that information to ClinVar.
This column contains more information supporting the classification, including citations, the comment on classification, and comprehensive proof offered as observations of the variant because of the submitter.
The affliction for your classification, furnished by the submitter for this submitted (SCV) document. This column also includes the influenced position and allele origin of people observed using this type of variant.
The combination germline classification for this variant, ordinarily for just a monogenic or Mendelian problem as within the ACMG/AMP recommendations, or for reaction to your drug. This price is calculated by NCBI based on knowledge from submitters. Read our policies for calculating the combination classification.
Read through our guidelines for calculating the evaluate position. This column also features a backlink to your submitter’s assertion standards if presented, and the gathering method.
The number of variants in ClinVar that are contained in just this gene, having a hyperlink to view the listing of variants.
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Aberrant 5' splice web sites in human sickness genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
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The number of variants in ClinVar for this gene, together with more compact variants within the gene and larger CNVs that overlap or absolutely have the gene.
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