Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Endocrinology Department, |
RCV000855547 | SCV000891705 | pathogenic | Acute intermittent porphyria | 2019-03-17 | criteria provided, single submitter | clinical testing | The variant in HMBS has been found in a Chinese girl and her father. The girl was clinically confirmed ACUTE INTERMITTENT PORPHYRIA Acute intermittent porphyria on Sep 5th, 2017. We identified its pathogenicity by the discovery of abnormal transcription by RT-PCR, cDNA sequencing and especially mini gene technology. The mutation adds 141 bps between exon 3 and 4 to produce a short protein(only 82 aa). |