About thr777
About thr777
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The effect of the variant on RNA or protein functionality, depending on experimental evidence from submitters.
This sequence modify affects codon 777 on the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be A part of the consensus splice web site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted within the literature in men and women impacted with GAA-related disorders.
This day represents the last time this VCV document was updated. The update may be because of an update to one of the incorporated submitted documents (SCVs), or because of an update that ClinVar made on the variant like incorporating HGVS expressions or even a rs range.
The worldwide minimal allele frequency calculated via the a thousand Genomes Challenge. The minimal allele at this place is indicated in parentheses and may be diverse from the allele represented by this VCV document.
The problem with the classification, provided by the submitter for this submitted (SCV) file. This column also involves the influenced position and allele origin of individuals noticed with this variant.
The aggregate germline classification for this variant, normally for your monogenic or Mendelian ailment as in the ACMG/AMP suggestions, or for response to some drug. This worth is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.
There are no citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please consider publishing that information and facts to ClinVar.
The volume of variants in ClinVar thr777 which can be contained in this gene, using a link to perspective the listing of variants.
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Stars depict the combination review status, or the level of evaluation supporting the combination germline classification for this VCV document.
The amount of variants in ClinVar for this gene, which includes scaled-down variants throughout the gene and larger CNVs that overlap or thoroughly incorporate the gene.
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