FAM204A

Chr 10

family with sequence similarity 204 member A

Also known as: C10orf84, bA319I23.1

NCBI Gene: 63877ENSG00000165669UniProt: Q9H8W3

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.77
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.008
Z-score 2.21
OE 0.39 (0.21–0.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.99Z-score
OE missense 0.74 (0.62–0.89)
88 obs / 118.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.21–0.77)
0≤0.351.4
Missense OE?0.74 (0.62–0.89)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 6 / 15.3Missense obs/exp: 88 / 118.4Syn Z: 0.18

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

FAM204A · 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