thr777 No Further a Mystery

thr777 No Further a Mystery

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The effect of the variant on RNA or protein functionality, based on experimental proof from submitters.

This sequence adjust affects codon 777 with the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be part of the consensus splice web-site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been reported within the literature in men and women afflicted with GAA-similar ailments.

There is not any functional proof in ClinVar for this variation. When you've got produced useful details for this variation, make sure you take into consideration distributing that info to ClinVar.

This column contains more details supporting the classification, such as citations, the touch upon classification, and in depth evidence supplied as observations of your variant because of the submitter.

The issue for your classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced status and allele origin of individuals noticed with this variant.

The combination germline classification for this variant, usually for any monogenic or Mendelian dysfunction as during the ACMG/AMP suggestions, or for response to the drug. This value is calculated by NCBI based upon data from submitters. Read our procedures for calculating the aggregate 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 distributing that information to ClinVar.

The number of variants in ClinVar that are thr777 contained in just this gene, that has a website link to see the listing of variants.

These citations are recognized by LitVar utilizing the rs quantity, so They might include citations for more than one variant at this site. Make sure you critique the LitVar outcomes thoroughly for your variant of curiosity. Report last updated May possibly 19, 2024 

Aberrant 5' splice web sites in human disorder genes: mutation pattern, nucleotide framework and comparison of computational instruments that predict their utilization.

Stars represent the combination overview status, or the extent of assessment supporting the aggregate germline classification for this VCV report.

The volume of variants in ClinVar for this gene, which includes lesser variants within the gene and larger CNVs that overlap or completely consist of the gene.

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Stars stand for the critique status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by knowledge from your submitter.