rs533237399

This variant is located in the JAG1 gene.

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ClinVar annotation

Conflicting Classifications

3 submitters1 publication

Alagille syndrome due to a JAG1 point mutation; not provided; Cardiovascular phenotype

About JAG1

The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]

View all JAG1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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