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

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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.