Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000218214 | SCV000279424 | pathogenic | not provided | 2015-08-18 | criteria provided, single submitter | clinical testing | The Q856X nonsense mutation in the JAG1 gene has been reported previously in association with Alagille syndrome (Röpke et al., 2003). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |