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ESRRA

Synonyms
ERR1, ERRa, ERRalpha, ESRL1, NR3B1
External resources
Summary
The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of the PGC-1 family of transcription cofactors to regulate the expression of most genes involved in cellular energy production as well as in the process of mitochondrial biogenesis. A processed pseudogene of ESRRA is located on chromosome 13q12.1.

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
170,872
Likely benign
51,062
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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