GNAI1 Chromosome 7
G protein subunit alpha i1
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What This Gene Does
Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
G protein subunits alpha, group i
Locus Type
gene with protein product
Location
7q21.11
Ensembl
ENSG00000127955
Associated Conditions (7)
Neurodevelopmental disorder with hypotonia
impaired speech
and behavioral abnormalities
Neurodevelopmental abnormality
Seizure
Inborn genetic diseases
Neurodevelopmental disorder
Key Variants
RS2484433537
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
Health Risk
RS1787388036
Likely pathogenic
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS1788434297
Likely pathogenic
Seizure, Seizure
Health Risk
RS1788434582
Likely pathogenic
Health Risk
RS1788436294
Likely pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
Health Risk
RS1788863320
Likely pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
Health Risk
RS2115631937
Likely pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
Health Risk
RS1788864590
Pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
Health Risk
RS2115712676
Pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
Health Risk
RS2115712712
Pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
Health Risk
RS2115727431
Pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
Health Risk
RS2116052322
Pathogenic
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2484433537 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities |
| RS1787388036 | Health Risk | Likely pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS1788434297 | Health Risk | Likely pathogenic | Seizure, Seizure |
| RS1788434582 | Health Risk | Likely pathogenic | — |
| RS1788436294 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities |
| RS1788863320 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities |
| RS2115631937 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities |
| RS1788864590 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities |
| RS2115712676 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities |
| RS2115712712 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities |
| RS2115727431 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities |
| RS2116052322 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities |
| RS1788434338 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia, impaired speech |
| RS2115683966 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities |
| RS2115712706 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities |