Not known Factual Statements About thr777
Not known Factual Statements About thr777
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The effect of your variant on RNA or protein purpose, dependant on experimental proof from submitters.
This sequence modify has an effect on codon 777 on the GAA mRNA. It is a 'silent' transform, that means 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 happens to be Portion of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in people influenced with GAA-similar situations.
There is no functional evidence in ClinVar for this variation. When you've got created useful knowledge for this variation, you should consider publishing that knowledge to ClinVar.
The global small allele frequency calculated from the a thousand Genomes Challenge. The minimal allele at this spot is indicated in parentheses and will be different within the allele represented by this VCV report.
The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people observed using this variant.
The combination germline classification for this variant, typically to get a monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for reaction to the drug. This thr777 value is calculated by NCBI according to info from submitters. Read through our regulations for calculating the mixture classification.
Go through our guidelines for calculating the evaluation position. This column also features a website link towards the submitter’s assertion criteria if presented, and the collection process.
The submitting Corporation for this submitted (SCV) report. This column also consists of the SCV accession and version selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
These citations are determined by LitVar utilizing the rs amount, so They could contain citations for multiple variant at this site. You should review the LitVar benefits carefully in your variant of desire. Document previous up-to-date May 19, 2024
Aberrant 5' splice internet sites in human ailment genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
Stars signify the combination critique status, or the extent of assessment supporting the aggregate germline classification for this VCV report.
The quantity of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or absolutely incorporate the gene.
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