Project HERA

DDX41 variants

Every DDX41 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

5 variants

DDX41 variants

Newest first. Each row opens the full report, criterion by criterion.

5 shown

Variant

Protein change

Classification

DDX41 NM_016222.2:c.1479C>T

NP_057306.2:p.(S493=)

DDX41 NM_016222.2:c.299-3C>T

NP_057306.2:p.?

In progress — classification not generated yet.

DDX41 NM_016222.2:c.521A>G

NP_057306.2:p.(D174G)

DDX41 NM_016222.2:c.1589G>A

NP_057306.2:p.(G530D)

DDX41 NM_016222.2:c.1480_1496dup

NP_057306.2:p.(A500Rfs*52)

Likely Pathogenic