For the complete documentation index, see llms.txt. This page is also available as Markdown.

Variant information card

Card contents

The Variant information card on the Curate Variant page shows key variant details.

Small variants

Variant information card for a small variant.

For small variants, including those in mtDNA, the Variant information card displays:

  • Variant type: SNV, small ins, or small del

  • Main variant effect

  • Affected gene

  • HGVS variant description

CNVs

Variant information card for a copy number variant.

For copy number variants, the Variant information card displays:

  • Variant type: DEL or DUP

  • Variant length

  • List of affected genes


How to update a reference transcript for a small variant

Updating the reference transcript for a small variant.

You can select or change a reference transcript for a small variant from the dropdown menu.

1

Open the reference transcript dropdown in the Variant information card.

2

Select the reference transcript you want to apply.

Result: The affected gene, main variant effect, and HGVS variant description are updated in the Variant information card and in the top bar.

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