RAP1GDS1 Chromosome 4

Rap1 GTPase-GDP dissociation stimulator 1
2 variants 2 Health Risk

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What This Gene Does
The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010]
Gene Info
Gene Group
Armadillo repeat containing
Locus Type
gene with protein product
Location
4q23
Ensembl
ENSG00000138698
Associated Conditions (1)
Alfadhel syndrome
Key Variants
RS2110217457
Pathogenic
Alfadhel syndrome, Alfadhel syndrome
Health Risk
RS2529805271
Pathogenic
Alfadhel syndrome, Alfadhel syndrome
Health Risk
All Variants (2)
RSID Category Clinical Significance Conditions
RS2110217457 Health Risk Pathogenic Alfadhel syndrome, Alfadhel syndrome
RS2529805271 Health Risk Pathogenic Alfadhel syndrome, Alfadhel syndrome
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