GABRR1

Chr 6

gamma-aminobutyric acid type A receptor subunit rho1

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.25
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.59
OE 0.87 (0.621.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.73Z-score
OE missense 0.88 (0.790.98)
256 obs / 290.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.621.25)
00.351.4
Missense OE?0.88 (0.790.98)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 22 / 25.2Missense obs/exp: 256 / 290.9Syn Z: -0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GABRR1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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