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FRG1

Synonyms
FRG1A, FSG1
External resources
Summary
This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus.

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
621,642
Likely benign
125,286
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on FRG1 gene.

Phenotype class
Patients in 3billion (%)

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