FSD1L
Chr 9fibronectin type III and SPRY domain containing 1 like
Also known as: CCDC10, CSDUFD1, FSD1CL, FSD1NL, MIR1, NEDSTV, RP109
ResearchGenerating clinical summary…
Clinical highlights
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Moderate LoF intolerance
LoF Constraint?
0.48LOEUF
pLI 0.234
Z-score 3.50
OE 0.24 (0.13–0.48)
More LoF-intolerant than ~75% of genes
Missense Constraint?
1.52Z-score
OE missense 0.71 (0.62–0.81)
156 obs / 219.4 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.24 (0.13–0.48)
0≤0.351.4
Missense OE?0.71 (0.62–0.81)
0≤0.61.4
Synonymous OE?0.76
0≤1.21.6
LoF obs/exp: 6 / 24.8Missense obs/exp: 156 / 219.4Syn Z: 1.61
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FSD1L · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools