The best Side of thr777
The best Side of thr777
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The impact on the variant on RNA or protein function, depending on experimental evidence from submitters.
This sequence adjust influences codon 777 from the GAA mRNA. It's a 'silent' adjust, this means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, which can be part of the consensus splice web site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed from the literature in individuals impacted with GAA-linked circumstances.
This date signifies the last time this VCV history was up-to-date. The update might be resulting from an update to on the list of incorporated submitted information (SCVs), or on account of an update that ClinVar designed on the variant including introducing HGVS expressions or perhaps a rs range.
The global slight allele frequency calculated via the one thousand Genomes Job. The minor allele at this place is indicated in parentheses and could be distinct within the allele represented by this VCV record.
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The aggregate germline classification for this variant, typically for just a monogenic or Mendelian condition as from the ACMG/AMP recommendations, or for response into a drug. This worth is calculated by NCBI based on information from submitters. Read our principles for calculating the combination classification.
Go through our policies for calculating the evaluation standing. This column also includes a url on the submitter’s assertion conditions if provided, and the collection process.
The quantity of variants in ClinVar which are contained in this gene, that has a website link to look at the listing of variants.
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Aberrant 5' splice internet sites in human sickness genes: mutation pattern, nucleotide structure and comparison of computational resources that forecast their utilization.
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The quantity of variants in ClinVar for this gene, including smaller sized variants in the gene and bigger CNVs that overlap or totally consist of the gene.
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