FAM184B

Chr 4

family with sequence similarity 184 member B

NCBI Gene: 27146ENSG00000047662UniProt: Q9ULE4OMIM: 619945

OMIMResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.84
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.84LOEUF
pLI 0.000
Z-score 2.50
OE 0.63 (0.48–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.12Z-score
OE missense 0.87 (0.80–0.93)
485 obs / 559.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.48–0.84)
0≤0.351.4
Missense OE?0.87 (0.80–0.93)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 34 / 53.8Missense obs/exp: 485 / 559.8Syn Z: 2.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM184B · 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