Little Known Facts About thr777.
Little Known Facts About thr777.
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The outcome with the variant on RNA or protein operate, based upon experimental evidence from submitters.
This sequence alter has an effect on codon 777 in the GAA mRNA. It is a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon sixteen, 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 afflicted with GAA-associated problems.
This day signifies the final time this VCV document was up-to-date. The update may very well be resulting from an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar made for the variant for example incorporating HGVS expressions or maybe a rs selection.
The worldwide slight allele frequency calculated through the 1000 Genomes Task. The slight allele at this area is indicated in parentheses and may be different within the allele represented by this VCV report.
The issue for the classification, supplied by the submitter for this submitted (SCV) history. This column also contains the afflicted status and allele origin of people noticed with this variant.
The aggregate germline classification for this variant, normally for the monogenic thr777 or Mendelian ailment as in the ACMG/AMP recommendations, or for response to some drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating the combination classification.
Browse our procedures for calculating the evaluate standing. This column also includes a website link for the submitter’s assertion criteria if delivered, and the gathering approach.
The number of variants in ClinVar that are contained in just this gene, that has a website link to see the listing of variants.
These citations are identified by LitVar using the rs range, so they may incorporate citations for multiple variant at this area. Be sure to evaluation the LitVar effects cautiously on your variant of desire. Document previous up-to-date May 19, 2024
Aberrant 5' splice web pages in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
Stars signify the combination overview status, or the extent of assessment supporting the aggregate germline classification for this VCV report.
The amount of variants in ClinVar for this gene, including more compact variants within the gene and larger CNVs that overlap or fully comprise the gene.
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