LIN28A
Chr 1lin-28 RNA binding posttranscriptional regulator A
Also known as: CSDD1, LIN-28, LIN28, ZCCHC1, lin-28A
The protein is an RNA-binding protein that regulates developmental timing and stem cell pluripotency by enhancing translation of specific mRNAs and inhibiting processing of let-7 and other microRNAs involved in cellular differentiation. Mutations cause primordial dwarfism with extreme short stature, microcephaly, and developmental delays, following an autosomal recessive inheritance pattern. The gene shows low constraint against loss-of-function variants, consistent with recessive disease causation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
39 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 5 | 0 | 5 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 22 | 5 | 0 | 27 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 22 | 10 | 1 | 33 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LIN28A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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