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ITM2A

Synonyms
BRICD2A, E25A
External resources
Summary
This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms 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
1,545
Likely benign
109
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ITM2A gene.

Phenotype class
Patients in 3billion (%)

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