LAS1L Chromosome X
LAS1 like ribosome biogenesis factor
Upload your DNA to see your personal genotypes for variants in LAS1L.
What This Gene Does
Enables RNA binding activity. Involved in rRNA processing. Located in nucleolus. Part of MLL1 complex. Implicated in Wilson-Turner syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Large ribosomal subunit biogenesis complex
Locus Type
gene with protein product
Location
Xq12
Ensembl
ENSG00000001497
Associated Conditions (4)
Wilson-Turner syndrome
Intellectual disability
Inborn genetic diseases
Global developmental delay
Key Variants
RS1410871672
Conflicting classifications of pathogenicity
Wilson-Turner syndrome, Wilson-Turner syndrome
Health Risk
RS148048579
Conflicting classifications of pathogenicity
Wilson-Turner syndrome, Wilson-Turner syndrome
Health Risk
RS200862250
Conflicting classifications of pathogenicity
Wilson-Turner syndrome, Intellectual disability, Wilson-Turner syndrome
Health Risk
RS752507559
Conflicting classifications of pathogenicity
Wilson-Turner syndrome, Wilson-Turner syndrome
Health Risk
RS769389600
Conflicting classifications of pathogenicity
Health Risk
RS867562406
Conflicting classifications of pathogenicity
Wilson-Turner syndrome, Wilson-Turner syndrome
Health Risk
RS1057522039
Likely pathogenic
Health Risk
RS1602612611
Likely pathogenic
Wilson-Turner syndrome, Wilson-Turner syndrome
Health Risk
RS797044926
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1173514495
Pathogenic
Wilson-Turner syndrome, Wilson-Turner syndrome
Health Risk
RS1057518699
Pathogenic/Likely pathogenic
Wilson-Turner syndrome, Global developmental delay, Wilson-Turner syndrome
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1410871672 | Health Risk | Conflicting classifications of pathogenicity | Wilson-Turner syndrome, Wilson-Turner syndrome |
| RS148048579 | Health Risk | Conflicting classifications of pathogenicity | Wilson-Turner syndrome, Wilson-Turner syndrome |
| RS200862250 | Health Risk | Conflicting classifications of pathogenicity | Wilson-Turner syndrome, Intellectual disability, Wilson-Turner syndrome |
| RS752507559 | Health Risk | Conflicting classifications of pathogenicity | Wilson-Turner syndrome, Wilson-Turner syndrome |
| RS769389600 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS867562406 | Health Risk | Conflicting classifications of pathogenicity | Wilson-Turner syndrome, Wilson-Turner syndrome |
| RS1057522039 | Health Risk | Likely pathogenic | — |
| RS1602612611 | Health Risk | Likely pathogenic | Wilson-Turner syndrome, Wilson-Turner syndrome |
| RS797044926 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1173514495 | Health Risk | Pathogenic | Wilson-Turner syndrome, Wilson-Turner syndrome |
| RS1057518699 | Health Risk | Pathogenic/Likely pathogenic | Wilson-Turner syndrome, Global developmental delay, Wilson-Turner syndrome |