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NELFE

Synonyms
D6S45, NELF-E, RD, RDBP, RDP
External resources
Summary
The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6.

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
12,051
Likely benign
2,280
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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