Project HERA

MPL variants

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

7 variants

MPL variants

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

7 shown

Variant

Protein change

Classification

MPL NM_005373.2:c.1494_1495insGTGATCGCTCTG

NP_005364.1:p.(L498_H499insVIAL)

MPL NM_005373.2:c.1494_1495insGTGATCGCTCTG

NP_005364.1:p.(L498_H499insVIAL)

MPL NM_005373.2:c.1513A>T

NP_005364.1:p.(S505C)

MPL NM_005373.2:c.1544G>T

NP_005364.1:p.(W515L)

MPL NM_005373.2:c.1544G>T

NP_005364.1:p.(W515L)

Likely Pathogenic

MPL NM_005373.2:c.1513A>T

NP_005364.1:p.(S505C)

MPL NM_005373.2:c.1544G>T

NP_005364.1:p.(W515L)

Likely Pathogenic