TMEM254

Chr 10

transmembrane protein 254

Also known as: C10orf57, bA369J21.6

NCBI Gene: 80195ENSG00000133678UniProt: Q8TBM7

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.48
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?
1.48LOEUF
pLI 0.001
Z-score 0.69
OE 0.72 (0.37–1.48)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.32Z-score
OE missense 1.11 (0.92–1.34)
75 obs / 67.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.72 (0.37–1.48)
0≤0.351.4
Missense OE?1.11 (0.92–1.34)
0≤0.61.4
Synonymous OE?0.79
0≤1.21.6
LoF obs/exp: 5 / 7.0Missense obs/exp: 75 / 67.6Syn Z: 0.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMEM254 · 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