Top Guidelines Of thr777
Top Guidelines Of thr777
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The impact from the variant on RNA or protein function, according to experimental proof from submitters.
This sequence improve has an effect on codon 777 with the GAA mRNA. It is just a 'silent' alter, indicating that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Component 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 documented during the literature in folks influenced with GAA-related disorders.
There isn't a functional proof in ClinVar for this variation. In case you have produced practical info for this variation, remember to look at distributing that info to ClinVar.
The global insignificant allele frequency calculated because of the one thousand Genomes Job. The insignificant allele at this locale is indicated in parentheses and should be diverse from your allele represented by this VCV record.
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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 determined by facts from submitters. Browse our rules for calculating the combination classification.
Read our rules thr777 for calculating the review position. This column also features a website link on the submitter’s assertion requirements if supplied, and the gathering system.
The distributing organization for this submitted (SCV) report. This column also involves the SCV accession and version variety, the day this SCV 1st appeared in ClinVar, and also the day this SCV was final current in ClinVar.
These citations are recognized by LitVar utilizing the rs number, so They might involve citations for more than one variant at this site. Please overview the LitVar results meticulously for your personal variant of interest. File past updated Could 19, 2024
Aberrant five' splice web-sites in human sickness 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, like more compact variants inside the gene and bigger CNVs that overlap or fully include the gene.
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