The influence on the variant on RNA or protein operate, based upon experimental evidence from submitters.
This sequence adjust affects codon 777 with the GAA mRNA. This is a 'silent' alter, this means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's Section of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in men and women afflicted with GAA-associated ailments.
This day signifies the last time this VCV document was up-to-date. The update may be resulting from an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar made on the variant which include introducing HGVS expressions or perhaps a rs quantity.
This column includes more info supporting the classification, which include citations, the comment on classification, and detailed evidence provided as observations with the variant with the submitter.
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The mixture germline classification for this variant, commonly for just a monogenic or Mendelian disorder as inside the ACMG/AMP pointers, or for reaction to your drug. This benefit is calculated by NCBI dependant on information from submitters. Go through our principles for calculating the mixture classification.
Study our guidelines for calculating the evaluation position. This column also features a website link for the submitter’s assertion criteria if delivered, and the gathering approach.
The submitting Corporation for this submitted (SCV) file. This column also includes the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, as well as date that this SCV was past thr777 up to date in ClinVar.
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Aberrant 5' splice websites in human illness genes: mutation pattern, nucleotide framework and comparison of computational resources that predict their utilization.
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The quantity of variants in ClinVar for this gene, such as smaller sized variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
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