FAM230G

Chr 22

family with sequence similarity 230 member G

NCBI Gene: 101927859ENSG00000188280

I cannot provide a clinical summary for FAM230G as no information about the protein's function, associated diseases, or inheritance patterns is provided in the data. The gene appears to have moderate constraint scores (pLI: 0.48, LOEUF: 1.45), but this alone is insufficient to generate a clinically meaningful summary without additional functional and phenotypic information.

Research
LOEUF 1.45
Clinical Summary— FAM230G
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.45LOEUF
pLI 0.481
Z-score 1.23
OE 0.00 (0.00–1.45)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-4.90Z-score
OE missense 1.96 (1.79–1.99)
405 obs / 206.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.00 (0.00–1.45)
0≤0.351.4
Missense OE1.96 (1.79–1.99)
0≤0.61.4
Synonymous OE1.86
0≤1.21.6
LoF obs/exp: 0 / 1.8Missense obs/exp: 405 / 206.8Syn Z: -7.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM230G · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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