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HOXD1

Synonyms
HOX4, HOX4G, Hox-4.7
External resources
Summary
This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis.

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
1,206
Likely benign
180
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on HOXD1 gene.

Phenotype class
Patients in 3billion (%)

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