FAM186A

Chr 12

family with sequence similarity 186 member A

NCBI Gene: 121006ENSG00000185958UniProt: A6NE01

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint?
0.80LOEUF
pLI 0.000
Z-score 3.15
OE 0.64 (0.51–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
3.49Z-score
OE missense 0.70 (0.66–0.75)
765 obs / 1088.7 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.64 (0.51–0.80)
0≤0.351.4
Missense OE?0.70 (0.66–0.75)
0≤0.61.4
Synonymous OE?0.78
0≤1.21.6
LoF obs/exp: 56 / 87.9Missense obs/exp: 765 / 1088.7Syn Z: 3.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM186A · 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.

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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