An Unbiased View of thr777

An Unbiased View of thr777

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

This sequence improve affects codon 777 of the GAA mRNA. It is a 'silent' transform, this means that it doesn't alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which happens to be Portion of the consensus splice site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been described from the literature in persons impacted with GAA-similar conditions.

There isn't a practical proof in ClinVar for this variation. For those who have created practical information for this variation, make sure you contemplate distributing that info to ClinVar.

This column consists of more information supporting the classification, together with citations, the comment on classification, and detailed proof supplied as observations of the variant with the submitter.

The ailment to the classification, furnished by the submitter for this submitted (SCV) file. 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, typically for any monogenic or Mendelian dysfunction as during the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating the combination classification.

There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that facts to ClinVar.

The submitting Corporation for this submitted (SCV) file. This column also consists of the SCV accession and Variation amount, the day this SCV very first appeared in ClinVar, and also the day this SCV was final current in ClinVar.

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The number of variants in ClinVar for this gene, like scaled-down variants throughout the gene and bigger CNVs that overlap or absolutely include the gene.

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Stars characterize the evaluate position, or the extent of assessment supporting the submitted (SCV) record. thr777 This worth is calculated by NCBI determined by information in the submitter.