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WDHD1

Synonyms
AND-1, AND1, CHTF4, CTF4
External resources
Summary
The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms.

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
9,516
Likely benign
12,049
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on WDHD1 gene.

Phenotype class
Patients in 3billion (%)

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