ARMH2

Chr 6

armadillo like helical domain containing 2

Also known as: C6orf229

NCBI Gene: 101928603ENSG00000260286UniProt: H3BNL8

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.51
LOEUF
DN
Mechanism· predicted
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?
1.51LOEUF
pLI 0.067
Z-score 0.90
OE 0.51 (0.21–1.51)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.43Z-score
OE missense 0.63 (0.52–0.77)
75 obs / 118.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.51 (0.21–1.51)
0≤0.351.4
Missense OE?0.63 (0.52–0.77)
0≤0.61.4
Synonymous OE?0.75
0≤1.21.6
LoF obs/exp: 2 / 3.9Missense obs/exp: 75 / 118.9Syn Z: 1.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARMH2 · 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