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MB

Synonyms
PVALB
External resources
Summary
This gene encodes a member of the globin superfamily and is expressed in skeletal and cardiac muscles. The encoded protein is a haemoprotein contributing to intracellular oxygen storage and transcellular facilitated diffusion of oxygen. At least three alternatively spliced transcript variants encoding the same protein have been reported.

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
388
Likely benign
13
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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