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ELF1

Synonyms
EFTUD1, RIA1
External resources
Summary
This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. 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
2,564
Likely benign
2,096
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ELF1 gene.

Phenotype class
Patients in 3billion (%)

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