The outcome of your variant on RNA or protein functionality, depending on experimental proof from submitters.
This sequence modify has an effect on codon 777 on the GAA mRNA. It's really 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 16, which can be Component of the consensus splice website for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been described in the literature in persons affected with GAA-relevant ailments.
This date represents the final time this VCV document was current. The update could possibly be as a result of an update to among the list of incorporated submitted data (SCVs), or on account of an update that ClinVar made towards the variant for example adding HGVS expressions or even a rs number.
The global slight allele frequency calculated through the a thousand Genomes Challenge. The minor allele at this place is indicated in parentheses and may be distinct in the allele represented by this VCV history.
The problem for the classification, supplied by the submitter for this submitted (SCV) file. This column also consists of the afflicted standing and allele origin of people observed using this variant.
The combination germline classification for this variant, usually for the monogenic or Mendelian ailment as in the ACMG/AMP recommendations, or for response into a drug. This worth is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.
Read our guidelines for calculating the evaluation position. This column also features a website link for the submitter’s assertion criteria if provided, and the gathering approach.
The amount of variants in ClinVar which are contained inside this gene, which has a link to perspective the listing of variants.
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