Indicators on thr777 You Should Know
Indicators on thr777 You Should Know
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The effect of the variant on RNA or protein functionality, based on experimental proof from submitters.
This sequence transform influences codon 777 on the GAA mRNA. It is a 'silent' transform, which means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, that's Portion of the consensus splice web page for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described in the literature in men and women afflicted with GAA-associated ailments.
This day signifies the last time this VCV document was up to date. The update may very well be on account of an update to among the involved submitted documents (SCVs), or due to an update that ClinVar created on the variant which include introducing HGVS expressions or a rs quantity.
The worldwide minimal allele frequency calculated because of the one thousand Genomes Undertaking. The minor allele at this location is indicated in parentheses and should be diverse from your allele represented by this VCV record.
The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of people observed with this variant.
The combination germline classification for this variant, usually for the monogenic or Mendelian dysfunction as during the ACMG/AMP recommendations, 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.
Read through our policies for calculating the overview status. This column also features a backlink on the submitter’s assertion requirements if supplied, and the gathering system.
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 the date this SCV was last up-to-date in ClinVar.
These citations are identified by LitVar using the rs selection, so they may include things like citations for more than one variant at this spot. Please assessment the LitVar success very carefully for your personal variant of curiosity. File past updated Could 19, 2024
Aberrant five' splice web pages in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
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The number of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or thoroughly have the gene.
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Stars characterize the evaluate standing, or the level of evaluation supporting the submitted (SCV) document. This value is calculated by NCBI based on details within the submitter.