Examine This Report on thr777

Examine This Report on thr777

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The influence on the variant on RNA or protein operate, based upon experimental evidence from submitters.

This sequence alter affects codon 777 of your GAA mRNA. It is just a 'silent' improve, which means that it does not alter the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's Portion of the consensus splice web page for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed during the literature in folks afflicted with GAA-similar circumstances.

There is not any functional proof in ClinVar for this variation. When you've got created purposeful facts for this variation, be sure to consider publishing that facts to ClinVar.

The worldwide slight allele frequency calculated through the a thousand Genomes Project. The minor allele at this location is indicated in parentheses and will be various in the allele represented by this VCV history.

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The aggregate germline classification for this variant, normally for any monogenic or Mendelian disorder as inside the ACMG/AMP pointers, or for reaction to your drug. This benefit is calculated by NCBI based on information from submitters. Go through our principles for calculating the combination classification.

Browse our guidelines for calculating the evaluate status. This column also includes a link to the submitter’s assertion criteria if presented, and the gathering system.

The amount of variants in ClinVar which are contained inside of this gene, that has a website link to perspective the list of variants.

These citations are discovered by LitVar using the rs selection, so they may include things like citations for multiple variant at this place. Be sure to overview the LitVar outcomes diligently for the variant of curiosity. Document previous up-to-date May well 19, 2024 

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

Stars signify the combination overview position, or the level of evaluate supporting the aggregate germline classification for this VCV report.

The amount of variants in ClinVar for this gene, like scaled-down variants in the thr777 gene and larger CNVs that overlap or totally include the gene.

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