An Unbiased View of thr777

An Unbiased View of thr777

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The result in the variant on RNA or protein perform, depending on experimental evidence from submitters.

This sequence alter has an effect on codon 777 on the GAA mRNA. It's a 'silent' improve, that 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 sixteen, that's Portion of the consensus splice web-site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed within the literature in folks afflicted with GAA-associated conditions.

There isn't any practical proof in ClinVar for this variation. When you have generated practical info for this variation, be sure to think about distributing that knowledge to ClinVar.

The worldwide slight allele frequency calculated with the one thousand Genomes Venture. The minimal allele at this location is indicated in parentheses and should be diverse through the allele represented by this VCV document.

The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted standing and allele origin of people noticed with this particular variant.

The combination germline classification for this variant, typically for any monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for reaction to a drug. This value is calculated by NCBI depending on knowledge from submitters. Read our guidelines for calculating the aggregate classification.

Study our guidelines for calculating the evaluation position. This column also features a website link to the submitter’s assertion conditions if presented, and the collection method.

The publishing Firm for this submitted (SCV) record. This column also features the SCV accession and Edition number, the date this SCV first appeared in ClinVar, plus the date that this SCV was past up to date in ClinVar.

These citations are discovered 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. Record previous up-to-date May perhaps 19, 2024 

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The number of variants in ClinVar for this gene, which include smaller sized variants in the gene and larger CNVs that overlap or entirely contain the gene.

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Stars signify the evaluation status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI depending on info from your submitter.