rs140929274

This variant is located in the RAB3GAP1 gene.

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ClinVar annotation

Conflicting Classifications

8 submitters3 publications

Warburg micro syndrome 1; not specified; not provided

About RAB3GAP1

This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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