Everything about thr777

Everything about thr777

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The impact from the variant on RNA or protein function, according to experimental evidence from submitters.

This sequence transform impacts codon 777 of the GAA mRNA. It is just a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Portion of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-relevant situations.

This day signifies the final time this VCV record was up to date. The update can be as a result of an update to on the list of integrated submitted information (SCVs), or on account of an update that ClinVar built to the variant like including HGVS expressions or possibly a rs variety.

This column includes more information supporting the classification, including citations, the touch upon classification, and thorough evidence supplied as observations from the variant through the submitter.

The problem to the classification, furnished by the submitter for this submitted (SCV) record. This column also incorporates the influenced standing and allele origin of people noticed using this type of variant.

The aggregate germline classification for this variant, generally for the monogenic or Mendelian condition as from the ACMG/AMP rules, or for reaction to a drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating the combination classification.

There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to look at submitting that facts to ClinVar.

The quantity of variants in ClinVar which have been contained within just this gene, by using a backlink to look at the listing of variants.

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Stars depict the review standing, or the extent of evaluation supporting the submitted (SCV) history. This benefit is calculated by NCBI based upon details in the submitter.