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SIX4

Synonyms
AREC3
External resources
Summary
This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells.

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
1,857
Likely benign
396
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SIX4 gene.

Phenotype class
Patients in 3billion (%)

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