ARHGAP19

Chr 10

Rho GTPase activating protein 19

Also known as: CMT2KK

NCBI Gene: 84986ENSG00000213390UniProt: Q14CB8

Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCharcot-Marie-Tooth disease, axonal, type 2KK
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.10
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.10LOEUF
pLI 0.000
Z-score 1.15
OE 0.77 (0.55–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.34Z-score
OE missense 0.94 (0.85–1.04)
257 obs / 272.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.77 (0.55–1.10)
0≤0.351.4
Missense OE?0.94 (0.85–1.04)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 22 / 28.6Missense obs/exp: 257 / 272.8Syn Z: 1.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARHGAP19 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients