Everything about thr777

Everything about thr777

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The effect in the variant on RNA or protein functionality, according to experimental proof from submitters.

This sequence modify affects codon 777 on the GAA mRNA. It's a 'silent' alter, indicating that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon 16, that's Component of the consensus splice website for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted while in the literature in individuals influenced with GAA-related disorders.

There isn't a practical proof in ClinVar for this variation. For those who have generated functional information for this variation, remember to look at distributing that facts to ClinVar.

This column features more info supporting the classification, which include citations, the comment on classification, and detailed evidence provided as observations of your variant with the submitter.

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The mixture germline classification for this variant, ordinarily for a monogenic or Mendelian condition as while in the ACMG/AMP pointers, or for reaction to your drug. This price is calculated by NCBI based on information from submitters. Go through our policies for calculating the mixture classification.

Study our guidelines for calculating the evaluation position. This column also features a website link for the submitter’s assertion criteria if supplied, and the collection technique.

The volume of variants in ClinVar that are contained in just this gene, that has a connection to view the list of variants.

These citations are determined by LitVar utilizing the rs quantity, so They might contain citations for more than one variant at this site. Make sure you review the LitVar results carefully to your variant of interest. Record previous up to date May possibly 19, 2024 

Aberrant 5' splice websites in human condition genes: mutation pattern, nucleotide construction and comparison of computational resources that predict their utilization.

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The number of variants in ClinVar for this gene, such as scaled-down variants throughout the gene and bigger CNVs that overlap or totally contain the gene.

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Stars stand for the evaluate position, or the level of evaluation supporting the submitted (SCV) document. This value is calculated by NCBI based on details within the submitter.