RRAGD Chromosome 6
Ras related GTP binding D
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What This Gene Does
RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]
Gene Info
Gene Group
Ras related GTP binding proteins
Locus Type
gene with protein product
Location
6q15
Ensembl
ENSG00000025039
Associated Conditions (10)
Inborn genetic diseases
Hypomagnesemia 7
renal
with or without dilated cardiomyopathy
HYPOMAGNESEMIA 7
RENAL
WITH DILATED CARDIOMYOPATHY
WITHOUT DILATED CARDIOMYOPATHY
RRAGD-related disorder
Renal tubulopathies
Key Variants
RS112998985
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2533173218
Likely pathogenic
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy
Health Risk
RS2127890783
Pathogenic
HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY
Health Risk
RS2533173234
Pathogenic
HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY
Health Risk
RS2533173502
Pathogenic
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112998985 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2533173218 | Health Risk | Likely pathogenic | Hypomagnesemia 7, renal, with or without dilated cardiomyopathy |
| RS2127890783 | Health Risk | Pathogenic | HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY |
| RS2533173234 | Health Risk | Pathogenic | HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY |
| RS2533173502 | Health Risk | Pathogenic | Hypomagnesemia 7, renal, with or without dilated cardiomyopathy |