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HMGB3

Synonyms
HMG-2a, HMG-4, HMG2A, HMG4
External resources
Summary
This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and may be aberrantly expressed in tumor cells. A mutation in this gene was associated with microphthalmia, syndromic 13. There are numerous pseudogenes of this gene on multiple chromosomes. Alternative splicing results in multiple transcript variants.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
104
Likely benign
0
Benign
260

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on HMGB3 gene.

Phenotype class
Patients in 3billion (%)

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