MARRVEL: Search Result

Human Gene Description (OMIM)

Gene-Phenotype RelationshipsOMIM

Reported Alleles from OMIMHPS4

Control Population Gene Summary (gnomAD database)

Control Population Gene Summary

Disease Population (Geno2MP database)HPS4

Reported Alleles from ClinVarHPS4

Copy Number Variation in Control Population (DGV Database)HPS4

Position	Size	Type	Subtype	Frequency	Gain	Loss	Sample Size	References	Genes
No data available in table

Gene Function TableHPS4

	Homolog	DIOPT Score	Expression	Molecular function	Cellular component	Biological process
Human	HPS4	NA	No data available

Multiple Protein AlignmentDIOPT v6HPS4