WHAT DOES THR777 MEAN?

What Does thr777 Mean?

What Does thr777 Mean?

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The outcome with the variant on RNA or protein purpose, determined by experimental evidence from submitters.

This sequence modify affects codon 777 on the GAA mRNA. It's a 'silent' transform, which means that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Section of the consensus splice site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in men and women influenced with GAA-associated problems.

There's no purposeful proof in ClinVar for this variation. When you've got created useful facts for this variation, you should look at publishing that knowledge to ClinVar.

This column features additional information supporting the classification, like citations, the comment on classification, and specific evidence delivered as observations on the variant from the submitter.

The condition for that classification, provided by the submitter for this submitted (SCV) file. This column also consists of the influenced position and allele origin of individuals observed using this type of variant.

The aggregate germline classification for this variant, typically for any monogenic or Mendelian dysfunction as within the ACMG/AMP suggestions, or for response into a drug. This price is calculated by NCBI dependant on data from submitters. Study our principles for calculating the aggregate classification.

Study our rules for calculating the review position. This column also includes a hyperlink to the submitter’s assertion conditions if presented, and the collection system.

The publishing Group for this submitted (SCV) report. This column also contains the SCV accession and Model range, the date this SCV first appeared in ClinVar, along with the day that this SCV was final up to date in ClinVar.

These citations are discovered by LitVar utilizing the rs quantity, so they may involve citations for multiple variant at this area. Be sure to assessment the LitVar effects very carefully in your variant of interest. Document very last current May possibly 19, 2024 

Aberrant 5' splice web pages in human disease genes: mutation sample, nucleotide structure and comparison of computational tools that forecast their utilization.

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

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Stars depict the review status, or the level of evaluation supporting the submitted (SCV) file. This worth is calculated by NCBI based upon data from the submitter.

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