Everything about thr777

Everything about thr777

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The impact on the variant on RNA or protein purpose, according to experimental proof from submitters.

This sequence modify has an effect on codon 777 on the GAA mRNA. It is a 'silent' transform, which means that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be Element of the consensus splice internet site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described while in the literature in folks affected with GAA-similar conditions.

This date represents the last time this VCV record was up-to-date. The update may be as a consequence of an update to among the list of incorporated submitted information (SCVs), or on account of an update that ClinVar manufactured to your variant for instance incorporating HGVS expressions or even a rs variety.

This column includes more info supporting the classification, which include citations, the comment on classification, and in-depth evidence provided as observations with the variant with the submitter.

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The combination germline classification for this variant, generally for the monogenic or Mendelian ailment as in the ACMG/AMP suggestions, or for response to some drug. This worth is calculated by NCBI based upon facts from submitters. Browse our procedures for calculating the aggregate classification.

There aren't any citations for germline classification thr777 of this variant in ClinVar. If you understand of citations for this variation, remember to take into account distributing that details to ClinVar.

The distributing Firm for this submitted (SCV) report. This column also features the SCV accession and Variation range, the date this SCV to start with appeared in ClinVar, plus the date this SCV was last up-to-date in ClinVar.

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Stars stand for the combination critique status, or the extent of evaluate supporting the mixture germline classification for this VCV document.

The quantity of variants in ClinVar for this gene, which include smaller sized variants within the gene and bigger CNVs that overlap or fully have the gene.

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The positioning is protected. The https:// makes certain that you'll be connecting towards the Formal website Which any information and facts you present is encrypted and transmitted securely.