ARHGDIA Chromosome 17
Rho GDP dissociation inhibitor alpha
Upload your DNA to see your personal genotypes for variants in ARHGDIA.
What This Gene Does
This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Associated Conditions (3)
ARHGDIA-related disorder
Nephrotic syndrome
type 8
Key Variants
RS111331642
Conflicting classifications of pathogenicity
ARHGDIA-related disorder, ARHGDIA-related disorder
Health Risk
RS372602369
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 8, Nephrotic syndrome
Health Risk
RS924285282
Likely pathogenic
Nephrotic syndrome, type 8, Nephrotic syndrome
Health Risk
RS587776969
Pathogenic
Nephrotic syndrome, type 8, Nephrotic syndrome
Health Risk
RS587777552
Pathogenic
Nephrotic syndrome, type 8, Nephrotic syndrome
Health Risk
RS587777553
Pathogenic
Nephrotic syndrome, type 8, Nephrotic syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111331642 | Health Risk | Conflicting classifications of pathogenicity | ARHGDIA-related disorder, ARHGDIA-related disorder |
| RS372602369 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 8, Nephrotic syndrome |
| RS924285282 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 8, Nephrotic syndrome |
| RS587776969 | Health Risk | Pathogenic | Nephrotic syndrome, type 8, Nephrotic syndrome |
| RS587777552 | Health Risk | Pathogenic | Nephrotic syndrome, type 8, Nephrotic syndrome |
| RS587777553 | Health Risk | Pathogenic | Nephrotic syndrome, type 8, Nephrotic syndrome |