The best Side of thr777
The best Side of thr777
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The impact from the variant on RNA or protein function, depending on experimental proof from submitters.
This sequence improve influences codon 777 from the GAA mRNA. This is a 'silent' adjust, that means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Section of the consensus splice site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-linked conditions.
This day signifies the final time this VCV document was current. The update may be as a consequence of an update to among the included submitted information (SCVs), or on account of an update that ClinVar built to the variant like including HGVS expressions or possibly a rs variety.
This column includes more info supporting the classification, like citations, the comment on classification, and specific evidence delivered as observations on the variant through the submitter.
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Read our rules for calculating the overview status. This column also includes a website link for the submitter’s assertion criteria if provided, and the gathering strategy.
The submitting Firm for this submitted (SCV) file. This column also features the SCV accession and version variety, the date this SCV first appeared in ClinVar, and the date that this SCV was very last current in ClinVar.
These citations are recognized by LitVar utilizing the rs amount, so They could contain citations for multiple variant at this location. You should review the LitVar success diligently in your variant of curiosity. Record final up to date Might 19, 2024
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The site is secure. The https:// ensures that you'll be connecting on the official Web site and that any information and facts you offer is encrypted and transmitted securely.
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