FSAF1

Chr 1

40S small subunit processome assembly factor 1

Also known as: C1orf131

NCBI Gene: 128061ENSG00000143633UniProt: Q8NDD1

Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome. Part of small-subunit processome. [provided by Alliance of Genome Resources, Jul 2025]

52
ClinVar variants
38
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— FSAF1
📋
ClinVar Variants
38 Pathogenic / Likely Pathogenic· 11 VUS of 52 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

52 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic2
VUS11
Likely Benign2
Benign1
36
Pathogenic
2
Likely Pathogenic
11
VUS
2
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————36
Likely Pathogenic
————2
VUS
————11
Likely Benign
————2
Benign
————1
Total—52

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FSAF1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for FSAF1

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