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HIF3A

Synonyms
HIF-3A, HIF3-alpha-1, IPAS, MOP7, PASD7, bHLHe17
External resources
Summary
The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
8,917
Likely benign
4,238
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on HIF3A gene.

Phenotype class
Patients in 3billion (%)

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