What Does thr777 Mean?

What Does thr777 Mean?

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The result in the variant on RNA or protein perform, depending on experimental evidence from submitters.

This sequence change impacts codon 777 with the GAA mRNA. It is a 'silent' modify, indicating that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is 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 claimed inside the literature in people afflicted with GAA-associated ailments.

This day represents the last time this VCV file was up-to-date. The update may be as a consequence of an update to on the list of provided submitted documents (SCVs), or due to an update that ClinVar produced to the variant like introducing HGVS expressions or even a rs amount.

The worldwide slight allele frequency calculated by the a thousand Genomes Challenge. The slight allele at this locale is indicated in parentheses and could be different from the allele represented by this VCV history.

The ailment for your classification, furnished by the submitter for this submitted (SCV) history. This column also features the impacted standing and allele origin of people observed using this variant.

The combination germline classification for this variant, usually for your monogenic or Mendelian problem as in the ACMG/AMP tips, or for response into a drug. This value is calculated by NCBI based on details from submitters. Read through our rules for calculating the combination classification.

Read our rules for calculating the review position. This column also includes a hyperlink to the submitter’s assertion conditions if furnished, and the collection technique.

The publishing Group for this submitted (SCV) document. This column also features the SCV accession and Model number, the date this SCV first appeared in ClinVar, plus the date that this SCV was past up to date in ClinVar.

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Aberrant five' splice web pages in human thr777 sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.

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The volume of variants in ClinVar for this gene, which include smaller sized variants in the gene and bigger CNVs that overlap or completely consist of the gene.

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