thr777 Secrets

thr777 Secrets

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The effect from the variant on RNA or protein operate, dependant on experimental proof from submitters.

This sequence transform impacts codon 777 of your GAA mRNA. This is a 'silent' change, indicating that it does not change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be part of the consensus splice web-site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented in the literature in men and women affected with GAA-linked circumstances.

This date signifies the last time this VCV record was up to date. The update may very well be due to an update to one of many involved submitted documents (SCVs), or because of an update that ClinVar produced on the variant which include introducing HGVS expressions or a rs quantity.

The global small allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and will be distinct in the allele represented by this VCV history.

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The aggregate germline classification for this variant, normally for your monogenic or Mendelian ailment as in the ACMG/AMP suggestions, or for response into a drug. This worth is calculated by NCBI determined by facts from submitters. Browse our rules for calculating the aggregate classification.

There aren't any citations for germline classification of this variant in ClinVar. If you already know of citations for this variation, you should think about submitting that info to ClinVar.

The number of variants in ClinVar that are contained in just this gene, by using a website link to view the listing of variants.

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Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.

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The number of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or entirely include the gene.

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