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NMD3

Synonyms
CGI-07
External resources
Summary
Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date.

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
31,440
Likely benign
2,824
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NMD3 gene.

Phenotype class
Patients in 3billion (%)

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