ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.160+5G>C

dbSNP: rs1592213590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Endocrinology Department, First Hospital Of Shanxi Medical University 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).

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