Details, Fiction and thr777

Details, Fiction and thr777

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The outcome of your variant on RNA or protein function, dependant on experimental proof from submitters.

This sequence change influences codon 777 in the GAA mRNA. It is a 'silent' adjust, which means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Element of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed within the literature in folks afflicted with GAA-relevant disorders.

This date signifies the final time this VCV report was current. The update might be resulting from an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar created on the variant which include adding HGVS expressions or even a rs quantity.

The global small allele frequency calculated because of the a thousand Genomes Job. The minor allele at this site is indicated in parentheses and could be distinct from the allele represented by this VCV record.

The issue to the classification, supplied by the submitter for this submitted (SCV) document. This column also features the afflicted status and allele origin of people observed using this type of variant.

The combination germline classification for this variant, ordinarily for a monogenic or Mendelian problem as in the ACMG/AMP recommendations, or for response to some drug. This price is calculated by NCBI determined by facts from submitters. Study our principles for calculating the combination classification.

Read through our guidelines for calculating the evaluation position. This column also features a connection for the submitter’s assertion criteria if supplied, and the gathering approach.

The submitting Corporation for this submitted (SCV) file. This column also consists of the SCV accession and Model amount, the date this SCV initial appeared in ClinVar, and also the day that this SCV was final up to date in ClinVar.

These citations are identified by LitVar using the rs amount, so They could incorporate citations for more than one variant at this place. Make sure you critique the LitVar effects very carefully for your personal variant of curiosity. Report past updated Could 19, 2024 

Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide construction and comparison of computational instruments that predict their utilization.

Stars depict the aggregate review standing, or the level of evaluate supporting the mixture germline classification for this VCV record.

The quantity of variants in ClinVar for this gene, such as lesser thr777 variants inside the gene and bigger CNVs that overlap or fully incorporate the gene.

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Stars signify the evaluation position, or the extent of overview supporting the submitted (SCV) file. This value is calculated by NCBI according to data from the submitter.