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BOLA2B

Synonyms
BOLA2
External resources
Summary
This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2 (bolA family member 2). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Alternative splicing results in multiple transcript variants.

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
13,889
Likely benign
0
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on BOLA2B gene.

Phenotype class
Patients in 3billion (%)

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