About thr777
About thr777
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The impact on the variant on RNA or protein perform, according to experimental evidence from submitters.
This sequence alter influences codon 777 with the GAA mRNA. It's a 'silent' modify, meaning that it does not alter the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Portion of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported during the literature in folks influenced with GAA-related situations.
This date signifies the last time this VCV history was updated. The update can be on account of an update to one of many included submitted information (SCVs), or resulting from an update that ClinVar manufactured to the variant for instance adding HGVS expressions or even a rs variety.
This column contains more information supporting the classification, together with citations, the comment on classification, and in depth proof presented as observations in the variant from the submitter.
The affliction for the classification, supplied by the submitter for this submitted (SCV) history. This column also features the influenced standing and allele origin of individuals observed using this type of variant.
The mixture germline classification for this variant, generally for just a monogenic or Mendelian condition as while in the ACMG/AMP pointers, or for reaction to the drug. This benefit is calculated by NCBI thr777 based on data from submitters. Study our guidelines for calculating the combination classification.
Read through our regulations for calculating the review standing. This column also features a hyperlink to the submitter’s assertion conditions if furnished, and the gathering method.
The number of variants in ClinVar which are contained within this gene, which has a backlink to check out the listing of variants.
These citations are identified by LitVar using the rs quantity, so They could contain citations for multiple variant at this locale. Remember to review the LitVar results thoroughly for the variant of fascination. History very last updated May possibly 19, 2024
Aberrant 5' splice web pages in human disease genes: mutation sample, nucleotide construction and comparison of computational instruments that predict their utilization.
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The quantity of variants in ClinVar for this gene, which include scaled-down variants inside the gene and larger CNVs that overlap or absolutely incorporate the gene.
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Stars represent the review position, or the extent of evaluation supporting the submitted (SCV) file. This worth is calculated by NCBI dependant on facts within the submitter.